773405004: Intellectual disability with strabismus syndrome (disorder)

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

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system (disorder)\Intellectual disability with strabismus syndrome (disorder)

\Disorder of eye movements\Strabismus\Heterotropia\Esotropia\Intellectual disability with strabismus syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Intellectual disability with strabismus syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability with strabismus syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Intellectual disability with strabismus syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Intellectual disability with strabismus syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Intellectual disability with strabismus syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Strabismus\Heterotropia\Esotropia\Intellectual disability with strabismus syndrome (disorder)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Intellectual disability with strabismus syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Intellectual disability with strabismus syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability with strabismus 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

3723416019 Intellectual disability with strabismus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3723417011 Intellectual disability with strabismus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3723418018 A rare genetic syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, and abnormal central nervous system myelination or corpus callosum agenesis. There is evidence the disease is caused by homozygous mutation in the ADAT3 gene on chromosome 19p13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3723419014 A rare genetic syndromic intellectual disability disorder characterised by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioural problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, and abnormal central nervous system myelination or corpus callosum agenesis. There is evidence the disease is caused by homozygous mutation in the ADAT3 gene on chromosome 19p13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4205231000052112 syndrom med intellektuell funktionsnedsättning och strabism 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
Intellectual disability with strabismus syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Intellectual disability with strabismus syndrome (disorder)	Is a	Esotropia	true	Inferred relationship	Some
Intellectual disability with strabismus syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Intellectual disability with strabismus syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Intellectual disability with strabismus syndrome (disorder)	Finding site	Structure of visual system (body structure)	true	Inferred relationship	Some	1
Intellectual disability with strabismus syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Intellectual disability with strabismus syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3723416019	Intellectual disability with strabismus syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723417011	Intellectual disability with strabismus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723418018	A rare genetic syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, and abnormal central nervous system myelination or corpus callosum agenesis. There is evidence the disease is caused by homozygous mutation in the ADAT3 gene on chromosome 19p13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723419014	A rare genetic syndromic intellectual disability disorder characterised by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioural problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, and abnormal central nervous system myelination or corpus callosum agenesis. There is evidence the disease is caused by homozygous mutation in the ADAT3 gene on chromosome 19p13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4205231000052112	syndrom med intellektuell funktionsnedsättning och strabism	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)