773405004: Intellectual disability with strabismus syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Intellectual disability with strabismus syndrome
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system\Intellectual disability with strabismus syndrome
• \Disorder of eye movements\Strabismus\Heterotropia\Esotropia\Intellectual disability with strabismus syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Intellectual disability with strabismus syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Intellectual disability with strabismus syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability with strabismus syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Intellectual disability with strabismus syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability with strabismus syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Intellectual disability with strabismus syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Intellectual disability with strabismus syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Intellectual disability with strabismus syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Strabismus\Heterotropia\Esotropia\Intellectual disability with strabismus syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability with strabismus syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability with strabismus syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3723417011	Intellectual disability with strabismus syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

REPLACED BY association reference set

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