1197591008: Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\Deformity of limb (finding)\Deformity of lower limb (finding)\Congenital deformity of lower limb (disorder)\anomalie morphologique congénitale du pied\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Deformity (finding)\Deformity of limb (finding)\Deformity of lower limb (finding)\Angulation deformity of lower limb\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Deformity (finding)\Deformity of limb (finding)\Deformity of lower limb (finding)\déformation d'un pied\anomalie morphologique congénitale du pied\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\Congenital deformity of lower limb (disorder)\anomalie morphologique congénitale du pied\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\Deformity of lower limb (finding)\Angulation deformity of lower limb\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Deformity of lower limb (finding)\Angulation deformity of lower limb\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Disorder of eye region (disorder)\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \Disorder of eye region (disorder)\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Hereditary disorder of the visual system\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Congenital anomaly of visual system\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disorder of eye movements\Strabismus\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye movements\Strabismus\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\déficience intellectuelle grave (trouble)\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of lower limb (disorder)\anomalie morphologique congénitale du pied\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\déficience intellectuelle grave (trouble)\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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\Multiple malformation syndrome with facial-limb defects as major feature\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of lower limb (disorder)\anomalie morphologique congénitale du pied\Congenital valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital strabismus\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus 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 valgus deformity of foot\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4697279019	Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4697280016	Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4697282012	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4697283019	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints and pes planovalgus. Seizures and episodes of aggressive behaviour during sleep have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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