770751003: Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)

\Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Dystonia\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Finding of head and neck region\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 motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Finding of head and neck region\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 motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Finding of head and neck region\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 motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Ear and auditory finding (finding)\Ear finding\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Functional finding\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Ear, nose and throat disorder\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\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 motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Movement disorder\Extrapyramidal disease\Dystonia\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3702449011 Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3702450011 Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3702451010 A rare genetic neurological with characteristics of intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). Caused by hemizygous mutation in the BCAP31 gene on chromosome Xq28. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4216491000052119 syndrom med svår motorisk och intellektuell funktionsnedsättning, sensorineural hörselnedsättning och dystoni 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 motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Is a	Dystonia	true	Inferred relationship	Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Is a	Sensorineural hearing loss	false	Inferred relationship	Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	4
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Finding site	Extrapyramidal system structure	true	Inferred relationship	Some	3
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Finding site	Ear structure	true	Inferred relationship	Some	1
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Is a	Congenital sensorineural hearing loss (disorder)	true	Inferred relationship	Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Is a	Disorder of ear	true	Inferred relationship	Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Interprets	Movement	true	Inferred relationship	Some	5
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	6
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	7
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3702449011	Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702450011	Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702451010	A rare genetic neurological with characteristics of intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). Caused by hemizygous mutation in the BCAP31 gene on chromosome Xq28.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4216491000052119	syndrom med svår motorisk och intellektuell funktionsnedsättning, sensorineural hörselnedsättning och dystoni	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)