783005002: syndroom van ernstige microbrachycefalie, verstandelijke beperking en athetoïde cerebrale verlamming (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformation of bone\Deformity of skull (disorder)\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Deformity (finding)\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebral palsy\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Head finding (finding)\Finding of brain\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
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Athetosis (disorder)\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \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\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Head finding (finding)\Skull finding\Disorder of skull (disorder)\Deformity of skull (disorder)\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Head finding (finding)\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of skull (disorder)\Deformity of skull (disorder)\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Head finding (finding)\Disorder of head (disorder)\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
• \Head finding (finding)\Disorder of head (disorder)\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
• \Head finding (finding)\Disorder of head (disorder)\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
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebral palsy\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Head finding (finding)\Disorder of head (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
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Athetosis (disorder)\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Athetosis (disorder)\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Finding of movement (finding)\Movement disorder\Paralytic syndrome\Cerebral palsy\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Cerebral palsy\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Finding of movement (finding)\Motor dysfunction\Dyskinesia\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebral palsy\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Central nervous system finding\Finding of brain\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
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Athetosis (disorder)\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebral palsy\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Central nervous system finding\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
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Athetosis (disorder)\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Functional finding\Cognitive function finding (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\Deformation of bone\Deformity of skull (disorder)\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull (disorder)\Deformity of skull (disorder)\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull (disorder)\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)\Disorder of bone development (disorder)\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 (disorder)\Disorder of skull (disorder)\Deformity of skull (disorder)\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\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\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Deformity of skull (disorder)\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\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 (disorder)\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\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 body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebral palsy\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of body system\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\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Athetosis (disorder)\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\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\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Deformity of skull (disorder)\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\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)\Disorder of skull (disorder)\Deformity of skull (disorder)\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of head (disorder)\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\Disorder of head (disorder)\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\Disorder of head (disorder)\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 (disorder)\Disorder of brain (disorder)\Cerebral palsy\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Disorder of head (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\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Athetosis (disorder)\Athetoid cerebral palsy\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\Athetosis (disorder)\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Movement disorder\Paralytic syndrome\Cerebral palsy\Non-spastic cerebral palsy (disorder)\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 (disorder)\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 malformation\Congenital malformation syndrome (disorder)\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 malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Developmental disorder\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\Developmental disorder\Congenital malformation\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 malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
• \Disease\Developmental disorder\Congenital malformation\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, 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
8676391000146117	syndroom van ernstige microbrachycefalie, mentale retardatie en athetoïde cerebrale parese	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8676401000146119	syndroom van ernstige microbrachycefalie, verstandelijke beperking en athetoïde cerebrale verlamming (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8676411000146117	syndroom van ernstige microbrachycefalie, verstandelijke handicap en athetoïde cerebrale paralyse	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8676421000146110	syndroom van ernstige microbrachycefalie, verstandelijke beperking en athetoïde cerebrale verlamming	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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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