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

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Congenital deformity\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
\Deformity (finding)\Deformity of bone\Brachycephaly\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)\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

\Finding of head and neck region\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

\Extrapyramidal disease\Non-spastic cerebral palsy (disorder)\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
\Extrapyramidal disease\Athetosis (disorder)\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)\...

\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)\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital abnormality of skull shape\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
\Disorder of head (disorder)\Disorder of skull (disorder)\Brachycephaly\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
\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
\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
\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
\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
\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
\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Athetosis (disorder)\Athetoid cerebral palsy\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\Skull finding\Disorder of skull (disorder)\Brachycephaly\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)\Deformity of bone\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\Bone finding\Disorder of bone (disorder)\Disorder 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 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)\Deformity of bone\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\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Brachycephaly\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\Dyskinesia\Dyskinetic cerebral palsy\Athetoid cerebral palsy\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome

\Disease\Disorder of body system\Disorder of nervous system (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\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)\Deformity of bone\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\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Brachycephaly\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)\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)\Brachycephaly\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\Mental disorder\Developmental mental disorder\Intellectual disability\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
\Disease\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\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
\Disease\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\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\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\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\Developmental disorder\Neurodevelopmental disorder\Developmental mental 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\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 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

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

4343631000052110 syndrom med allvarlig mikrobrakycefali, intellektuell funktionsnedsättning och atetotisk cerebral pares sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Associated morphology	medfödd deformitet	false	Inferred relationship	Some	1
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Is a	Congenital abnormality of skull shape	true	Inferred relationship	Some
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Is a	Brachycephaly	true	Inferred relationship	Some
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Is a	Athetoid cerebral palsy	true	Inferred relationship	Some
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Is a	Congenital deformity	true	Inferred relationship	Some
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Finding site	Bone structure of cranium	true	Inferred relationship	Some	1
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Finding site	Cerebrum	true	Inferred relationship	Some	5
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Clinical course	Non-progressive	true	Inferred relationship	Some	3
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Finding site	Extrapyramidal system structure	true	Inferred relationship	Some	4
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Interprets	Movement	true	Inferred relationship	Some	6
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Associated morphology	Deformity	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
4343631000052110	syndrom med allvarlig mikrobrakycefali, intellektuell funktionsnedsättning och atetotisk cerebral pares	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)