1172691004: Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\CLCN4-related X-linked intellectual disability syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\CLCN4-related X-linked intellectual disability syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\CLCN4-related X-linked intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\CLCN4-related X-linked intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\CLCN4-related X-linked intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\CLCN4-related X-linked intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease\CLCN4-related X-linked intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\CLCN4-related X-linked intellectual disability syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\CLCN4-related X-linked intellectual disability syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\CLCN4-related X-linked intellectual disability syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\CLCN4-related X-linked intellectual disability syndrome

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4635387017	Raynaud Claes syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4635388010	Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4635389019	Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4635390011	CLCN4-related X-linked intellectual disability syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4635391010	A rare X-linked syndromic intellectual disability with characteristics of intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, hetero and autoaggression) and epilepsy. Progressive neurological symptoms like movement disorders and spasticity along with subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males.	en	Definition	Active	Case sensitive	SNOMED CT core
4635392015	A rare X-linked syndromic intellectual disability with characteristics of intellectual disability of variable degree, behavioural anomalies (including autism, mood disorders, obsessive-compulsive behaviour, hetero and autoaggression) and epilepsy. Progressive neurological symptoms like movement disorders and spasticity along with subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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