722452004: Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Deformity (finding)\Deformity of limb (finding)\Deformity of lower limb (finding)\Congenital deformity of lower limb (disorder)\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Deformity (finding)\Deformity of limb (finding)\Deformity of lower limb (finding)\Congenital deformity of lower limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Deformity (finding)\Deformity of limb (finding)\Deformity of lower limb (finding)\déformation d'un pied\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Deformity (finding)\Deformity of limb (finding)\Deformity of lower limb (finding)\déformation d'un pied\déformation d'un orteil\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Deformity (finding)\Deformity of limb (finding)\déformation d'un membre supérieur\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Deformity (finding)\Deformity of limb (finding)\déformation d'un membre supérieur\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Deformity (finding)\Deformity of limb (finding)\déformation d'un membre supérieur\déformation d'une main\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Deformity (finding)\anomalie morphologique congénitale\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Deformity (finding)\anomalie morphologique congénitale\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Deformity (finding)\anomalie morphologique congénitale\Congenital deformity of lower limb (disorder)\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Deformity (finding)\anomalie morphologique congénitale\Congenital deformity of lower limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)

\constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Deformity of limb (finding)\Deformity of lower limb (finding)\Congenital deformity of lower limb (disorder)\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Deformity of limb (finding)\Deformity of lower limb (finding)\Congenital deformity of lower limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Deformity of limb (finding)\Deformity of lower limb (finding)\déformation d'un pied\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Deformity of limb (finding)\Deformity of lower limb (finding)\déformation d'un pied\déformation d'un orteil\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Deformity of limb (finding)\déformation d'un membre supérieur\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Deformity of limb (finding)\déformation d'un membre supérieur\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Deformity of limb (finding)\déformation d'un membre supérieur\déformation d'une main\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\polydactylie\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of foot\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Polymelia\polydactylie\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Deformity of lower limb (finding)\Congenital deformity of lower limb (disorder)\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Deformity of lower limb (finding)\Congenital deformity of lower limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Deformity of lower limb (finding)\déformation d'un pied\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Deformity of lower limb (finding)\déformation d'un pied\déformation d'un orteil\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Toe finding (finding)\déformation d'un orteil\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Toe finding (finding)\Disorder of toe\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\déformation d'un pied\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\déformation d'un pied\déformation d'un orteil\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Congenital anomaly of foot\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Congenital anomaly of foot\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of foot\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\déformation d'un membre supérieur\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\déformation d'un membre supérieur\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\déformation d'un membre supérieur\déformation d'une main\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Finding of digit of hand\Finding of finger\Disorder of finger\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Finding of digit of hand\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\déformation d'une main\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\polydactylie\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of foot\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Polymelia\polydactylie\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of lower limb (disorder)\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of lower limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Congenital anomaly of foot\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Polymelia\polydactylie\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of lower limb (disorder)\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of lower limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Congenital anomaly of foot\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Polymelia\polydactylie\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital deformity of lower limb (disorder)\Congenital undergrowth of partial lower limb\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\anomalie morphologique congénitale du pied\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Congenital deformity of toe (disorder)\Brachydactyly of toes\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Brachydactyly of hand\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Polydactyly of fingers\Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3332194019 Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3332197014 Preaxial deficiency, postaxial polydactyly, hypospadias syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3332198016 Guttmacher syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3332199012 An extremely rare syndrome with characteristics of hypoplastic thumbs and halluces, fifth finger brachydactyly, postaxial polydactyly of the hands, short or uniphalangeal second toes with absent nails and hypospadias. It has been described in a father and his son and daughter. The affected patients have normal mental development. Except for postaxial polydactyly of the hands and uniphalangeal second toes with absent nails, features are in common with hand-foot-genital syndrome caused by mutations in the HOXA13 gene. In all three affected individuals, two different sequence alterations were identified in HOXA13 gene: a de novo missense mutation and a deletion in the promoter region of the gene, inherited from an unaffected parent, which may contribute to the phenotype in the affected individuals. The condition is inherited in an autosomal dominant manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	localisation d'une constatation (attribut)	doigt de la main, sauf le pouce	true	Inferred relationship	Some	1
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	morphologie associée (attribut)	Supernumerary structure	true	Inferred relationship	Some	1
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	2
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	morphologie associée (attribut)	Abnormally short growth	true	Inferred relationship	Some	3
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	localisation d'une constatation (attribut)	Entire digit of hand	true	Inferred relationship	Some	3
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	est un(e) (attribut)	Congenital deformity of toe (disorder)	false	Inferred relationship	Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	2
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	est un(e) (attribut)	Brachydactyly of toes	true	Inferred relationship	Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	est un(e) (attribut)	Congenital anomaly of toe	false	Inferred relationship	Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	est un(e) (attribut)	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	est un(e) (attribut)	Polydactyly of fingers	true	Inferred relationship	Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	est un(e) (attribut)	Dysostosis	true	Inferred relationship	Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	est un(e) (attribut)	Congenital undergrowth of partial lower limb	false	Inferred relationship	Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	est un(e) (attribut)	Brachydactyly of hand	true	Inferred relationship	Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	4
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	5
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	6
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	7
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	morphologie associée (attribut)	Abnormally short growth	false	Inferred relationship	Some	7
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	morphologie associée (attribut)	Supernumerary structure	false	Inferred relationship	Some	6
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	localisation d'une constatation (attribut)	doigt de la main, sauf le pouce	false	Inferred relationship	Some	6
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	morphologie associée (attribut)	Abnormally short growth	true	Inferred relationship	Some	4
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	localisation d'une constatation (attribut)	Entire digit of hand	false	Inferred relationship	Some	7
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	localisation d'une constatation (attribut)	Entire toe	true	Inferred relationship	Some	4
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	5
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3332194019	Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332197014	Preaxial deficiency, postaxial polydactyly, hypospadias syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332198016	Guttmacher syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332199012	An extremely rare syndrome with characteristics of hypoplastic thumbs and halluces, fifth finger brachydactyly, postaxial polydactyly of the hands, short or uniphalangeal second toes with absent nails and hypospadias. It has been described in a father and his son and daughter. The affected patients have normal mental development. Except for postaxial polydactyly of the hands and uniphalangeal second toes with absent nails, features are in common with hand-foot-genital syndrome caused by mutations in the HOXA13 gene. In all three affected individuals, two different sequence alterations were identified in HOXA13 gene: a de novo missense mutation and a deletion in the promoter region of the gene, inherited from an unaffected parent, which may contribute to the phenotype in the affected individuals. The condition is inherited in an autosomal dominant manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core