1332510002: Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)
• \Functional finding\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)
• \Functional finding\Language finding\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)
• \Speech finding\Speech and language finding\...
• \Communication, speech and language finding\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)
• \Language finding\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)
• \Disease\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)
• \Disease\Developmental disorder\Developmental language disorder\Developmental speech disorder\Speech delay\Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)
• \Disease\Developmental disorder\Developmental delay\Speech delay\Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5354690019	Sifrim Hitz Weiss syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5354691015	Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5354692010	Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5354693017	CHD4-related neurodevelopmental disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5354694011	CHD4-related neurodevelopmental syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5354695012	A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, speech delay and variable degree of intellectual disability (mostly mid-to-moderate but some patients may also have normal intelligence) due to CHD4 gene mutations. Even though clinical manifestations are significantly variable among patients, most patients manifest dysmorphic facial features (could sometimes include macrocephaly), congenital heart defects, hypotonia and ophthalmologic abnormalities. Other clinical features may include brain structure anomalies, skeletal anomalies, hearing impairment and gonadal abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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