773416006: Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \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)\Intellectual disability, facial dysmorphism, hand anomalies 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)\Intellectual disability, facial dysmorphism, hand anomalies 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)\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies 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)\Intellectual disability, facial dysmorphism, hand anomalies 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)\Intellectual disability, facial dysmorphism, hand anomalies 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)\Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \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\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies 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\Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723469018	Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723470017	Intellectual disability, facial dysmorphism, hand anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723471018	A rare syndromic intellectual disability disorder with characteristics of moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly) and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed.	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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