43476002: Brachydactyly (disorder)

SNOMED CT Concept\constatation clinique\...

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie
\Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie

\constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie
\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
\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
\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

\Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie
\Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie
\Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie
\Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2007. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
brachydactylie	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
brachydactylie	est un(e) (attribut)	anomalie morphologique congénitale	false	Inferred relationship	Some
brachydactylie	est un(e) (attribut)	Congenital abnormal shape of digit	true	Inferred relationship	Some
brachydactylie	est un(e) (attribut)	Disorder of digit	false	Inferred relationship	Some
brachydactylie	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	2
brachydactylie	localisation d'une constatation (attribut)	structure d'un membre	false	Inferred relationship	Some	2
brachydactylie	est un(e) (attribut)	Congenital anomaly of limb	false	Inferred relationship	Some
brachydactylie	est un(e) (attribut)	Congenital anomaly of digit (disorder)	false	Inferred relationship	Some
brachydactylie	est un(e) (attribut)	Longitudinal deficiency of limb	false	Inferred relationship	Some
brachydactylie	est un(e) (attribut)	Deformity (finding)	false	Inferred relationship	Some
brachydactylie	morphologie associée (attribut)	Abnormally short growth	false	Inferred relationship	Some	1
brachydactylie	localisation d'une constatation (attribut)	Digit structure	false	Inferred relationship	Some	1
brachydactylie	est un(e) (attribut)	Deformity of limb (finding)	false	Inferred relationship	Some
brachydactylie	survenue (attribut)	congénital	false	Inferred relationship	Some	2
brachydactylie	est un(e) (attribut)	Longitudinal deficiency of limb	false	Inferred relationship	Some
brachydactylie	morphologie associée (attribut)	Abnormally short growth	false	Inferred relationship	Some	2
brachydactylie	localisation d'une constatation (attribut)	Digit structure	false	Inferred relationship	Some	2
brachydactylie	morphologie associée (attribut)	Abnormally short growth	true	Inferred relationship	Some	1
brachydactylie	survenue (attribut)	congénital	true	Inferred relationship	Some	1
brachydactylie	localisation d'une constatation (attribut)	Digit structure	true	Inferred relationship	Some	1
brachydactylie	est un(e) (attribut)	Longitudinal deficiency of part of limb (disorder)	true	Inferred relationship	Some
brachydactylie	localisation d'une constatation (attribut)	Entire digit	false	Inferred relationship	Some	1
brachydactylie	morphologie associée (attribut)	Abnormally short growth	false	Inferred relationship	Some	1
brachydactylie	localisation d'une constatation (attribut)	Musculoskeletal system structure of digit (body structure)	false	Inferred relationship	Some
brachydactylie	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some
brachydactylie	localisation d'une constatation (attribut)	Digit structure	false	Inferred relationship	Some	1
brachydactylie	survenue (attribut)	congénital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acrodysplasia scoliosis (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Brachydactyly of finger of right hand	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Brachydactyly of finger of left hand (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Temtamy preaxial brachydactyly syndrome	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Hand-foot-genital syndrome	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Brachydactyly type D (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Brachydactyly type A3 (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Brachydactyly of hand	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Sugarman brachydactyly (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Weill-Marchesani syndrome	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Brachydactyly syndrome type B (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Brachydactyly syndrome type C (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
brachyphalangie	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Brachydactyly of toes	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Brachydactyly syndrome type E	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Brachymegalodactyly	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
anomalie longitudinale des phalanges d'une main	est un(e) (attribut)	False	brachydactylie	Inferred relationship	Some
Microdactyly	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Brachydactyly NOS	est un(e) (attribut)	False	brachydactylie	Inferred relationship	Some
Brachydactyly-missing phalanx	est un(e) (attribut)	False	brachydactylie	Inferred relationship	Some
Brachydactyly-all 3 phalanges	est un(e) (attribut)	False	brachydactylie	Inferred relationship	Some
Familial digital arthropathy and brachydactyly syndrome (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Ulna fibula ray defect and brachydactyly syndrome (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Brachydactyly type A2 (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Brachydactyly type A5 (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Brachydactyly type A7 (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Cooks syndrome (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Heart-hand syndrome Slovenian type (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
syndrome de maladie de Hirschsprung-brachydactylie type D	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Mammary digital nail syndrome (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Ballard syndrome (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Keutel syndrome (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Brachydactyly and preaxial hallux varus syndrome	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Long thumb brachydactyly syndrome	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Skeletal dysplasia brachydactyly syndrome	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
symbrachydactylie	est un(e) (attribut)	False	brachydactylie	Inferred relationship	Some
Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Symbrachydactyly	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Brachydactyly elbow wrist dysplasia (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
syndrome de brachydactylie, mésomélie, déficience intellectuelle, malformation cardiaque	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Cono-spondylar dysplasia (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some
Brachydactyly type B2 (disorder)	est un(e) (attribut)	True	brachydactylie	Inferred relationship	Some

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

US English

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Id	Description	Lang	Type	Status	Case?	Module
23261000077114	brachydactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
511071000077115	brachydactylie (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
72517016	Brachydactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
780492016	Brachydactyly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core