787174003: Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.
• \Finding of movement\Movement disorder\A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.
• \Truncal ataxia\A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.
• \Disease\Movement disorder\A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.
• \Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.
• \Disease\Developmental disorder\Developmental hereditary disorder\A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3774806013	A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3774807016	A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalised, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3774804011	Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3774805012	Intellectual disability, hyperkinetic movement, truncal ataxia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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