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

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Congenital deformity\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Deformity\Deformity of bone\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Finding of movement\Movement disorder\Extrapyramidal disease\Non-spastic cerebral palsy\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Finding of movement\Movement disorder\Extrapyramidal disease\Athetosis\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Finding of movement\Movement disorder\Paralytic syndrome\Cerebral palsy\Non-spastic cerebral palsy\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Cerebral palsy\Non-spastic cerebral palsy\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Finding of movement\Motor dysfunction\Dyskinesia\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebral palsy\Non-spastic cerebral palsy\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Non-spastic cerebral palsy\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Athetosis\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebral palsy\Non-spastic cerebral palsy\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Non-spastic cerebral palsy\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Athetosis\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Cerebral palsy\Non-spastic cerebral palsy\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Extrapyramidal disease\Non-spastic cerebral palsy\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Extrapyramidal disease\Athetosis\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Skull finding\Disorder of skull\...
• \Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disorder of head\Disorder of skull\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disorder of head\Encephalopathy\Cerebral palsy\Non-spastic cerebral palsy\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disorder of head\Encephalopathy\Extrapyramidal disease\Non-spastic cerebral palsy\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disorder of head\Encephalopathy\Extrapyramidal disease\Athetosis\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Deformity of bone\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Neurological finding\Motor nervous system finding\Motor dysfunction\...
• \Paralysis\Paralytic syndrome\Cerebral palsy\Non-spastic cerebral palsy\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Dyskinesia\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebral palsy\Non-spastic cerebral palsy\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Non-spastic cerebral palsy\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Athetosis\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of head\Disorder of skull\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebral palsy\Non-spastic cerebral palsy\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Non-spastic cerebral palsy\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Athetosis\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Movement disorder\Extrapyramidal disease\Non-spastic cerebral palsy\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Movement disorder\Extrapyramidal disease\Athetosis\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Movement disorder\Paralytic syndrome\Cerebral palsy\Non-spastic cerebral palsy\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome

Status: current, Primitive. 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	Active	Case insensitive	SNOMED CT core
3757108018	Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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