783005002: Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\anomalie morphologique congénitale\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Deformity (finding)\déformation d'un os\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \constatation à propos du mouvement\Movement disorder\Extrapyramidal disease\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \constatation à propos du mouvement\Movement disorder\Extrapyramidal disease\athétose (trouble)\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \constatation à propos du mouvement\trouble moteur\Dyskinesia\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\paralysie cérébrale (trouble)\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\athétose (trouble)\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\paralysie cérébrale (trouble)\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\athétose (trouble)\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \paralysie cérébrale (trouble)\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Extrapyramidal disease\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Extrapyramidal disease\athétose (trouble)\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \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\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Skull finding\Disorder of skull (disorder)\...
• \anomalie congénitale du crâne (trouble)\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \affection de la tête\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \affection de la tête\Disorder of skull (disorder)\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \affection de la tête\Disorder of brain (disorder)\paralysie cérébrale (trouble)\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\athétose (trouble)\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Skull finding\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Skull finding\Disorder of skull (disorder)\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\déformation d'un os\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of skull (disorder)\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \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\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\déformation d'un os\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Neurological finding\Motor nervous system finding\trouble moteur\Dyskinesia\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\paralysie cérébrale (trouble)\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\paralysie cérébrale (trouble)\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\athétose (trouble)\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \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\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\déformation d'un os\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\affection de la tête\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\affection de la tête\Disorder of skull (disorder)\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\paralysie cérébrale (trouble)\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\athétose (trouble)\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Movement disorder\Extrapyramidal disease\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Movement disorder\Extrapyramidal disease\athétose (trouble)\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy 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\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3757107011	Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3757108018	Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3757109014	An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.	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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