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

SNOMED CT Concept\Clinical finding\...

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

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

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

\Finding of head and neck region\Head finding\Finding of brain\Disorder of brain\Extrapyramidal disease\Dystonia\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of brain\Extrapyramidal disease\Dystonia\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
\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
\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

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

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

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

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

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 SNOMED CT core module

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Is a	Dystonia	true	Inferred relationship	Existential restriction modifier
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Is a	Sensorineural hearing loss	false	Inferred relationship	Existential restriction modifier
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	4
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Finding site	Extrapyramidal system structure	true	Inferred relationship	Existential restriction modifier	3
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Finding site	Ear structure	true	Inferred relationship	Existential restriction modifier	1
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Is a	Disorder of ear	true	Inferred relationship	Existential restriction modifier
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Interprets	Movement	true	Inferred relationship	Existential restriction modifier	5
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	6
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	7
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	7

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
3702449011	Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3702450011	Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module