1187114007: Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\affection d'une extrémité\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \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\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4669923010	Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669924016	Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669925015	Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669926019	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterised by mild global developmental delay, intellectual disability or learning difficulties, behavioural problems (like autistic, hyperactive, or aggressive behaviour), variable dysmorphic craniofacial features and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4669927011	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by mild global developmental delay, intellectual disability or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable dysmorphic craniofacial features and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies among others.	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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