1254654006: X-linked intellectual disability, hypotonia, movement disorder syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\X-linked intellectual disability, hypotonia, movement disorder syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\X-linked intellectual disability, hypotonia, movement disorder syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability, hypotonia, movement disorder syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability, hypotonia, movement disorder syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability, hypotonia, movement disorder syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\X-linked intellectual disability, hypotonia, movement disorder syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\X-linked intellectual disability, hypotonia, movement disorder syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\X-linked intellectual disability, hypotonia, movement disorder syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5142885013	X-linked intellectual disability, hypotonia, movement disorder syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5142886014	X-linked intellectual disability, hypotonia, movement disorder syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400352017	A rare, genetic, syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400353010	A rare, genetic, syndromic intellectual disability characterised by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioural problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5142885013	X-linked intellectual disability, hypotonia, movement disorder syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5142886014	X-linked intellectual disability, hypotonia, movement disorder syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5142887017	A rare genetic syndromic intellectual disability characterised by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioural problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features such as joint hyperlaxity, skin pigmentary abnormalities and visual impairment have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5142888010	A rare genetic syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features such as joint hyperlaxity, skin pigmentary abnormalities and visual impairment have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400352017	A rare, genetic, syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400353010	A rare, genetic, syndromic intellectual disability characterised by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioural problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Component annotation with string value reference set (foundation metadata concept)

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