773405004: Intellectual disability with strabismus syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Intellectual disability with strabismus syndrome (disorder)
• \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)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Intellectual disability with strabismus syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Intellectual disability with strabismus syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Intellectual disability with strabismus syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\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 (disorder)\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\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Intellectual disability with strabismus syndrome (disorder)
• \Disease\Developmental disorder (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
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
3411011001000117	Intelligenzminderung-Strabismus-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6377151000241114	syndrome de déficience intellectuelle avec strabisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6377151000241114	syndrome de déficience intellectuelle avec strabisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3411011001000117	Intelligenzminderung-Strabismus-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

Back to Start