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

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4635387017 Raynaud Claes syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4635388010 Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4635389019 Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4635390011 CLCN4-related X-linked intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

9985761000172115 syndrome de déficience intellectuelle liée à l'X associé au CLCN4 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

9985771000172112 syndrome de Raynaud Claes fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

9985781000172110 syndrome de retard mental lié à l'X associé au canal chlorure 4 voltage-dépendant fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7270521000172111 CLCN4-gerelateerd X-gebonden syndroom van mentale retardatie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

7270531000172114 MRX15-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

7270541000172119 Raynaud-Claes-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

7270551000172117 'chloride voltage-gated channel 4'-gerelateerd X-gebonden syndroom van verstandelijke beperking nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7270561000172115 CLCN4-gerelateerd X-gebonden syndroom van verstandelijke handicap nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

7270571000172112 MRX49-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

7270581000172110 CLCN4-gerelateerd X-gebonden syndroom van verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Some
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4635387017	Raynaud Claes syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4635388010	Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4635389019	Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4635390011	CLCN4-related X-linked intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
9985761000172115	syndrome de déficience intellectuelle liée à l'X associé au CLCN4	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
9985771000172112	syndrome de Raynaud Claes	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
9985781000172110	syndrome de retard mental lié à l'X associé au canal chlorure 4 voltage-dépendant	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7270521000172111	CLCN4-gerelateerd X-gebonden syndroom van mentale retardatie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
7270531000172114	MRX15-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
7270541000172119	Raynaud-Claes-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
7270551000172117	'chloride voltage-gated channel 4'-gerelateerd X-gebonden syndroom van verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7270561000172115	CLCN4-gerelateerd X-gebonden syndroom van verstandelijke handicap	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
7270571000172112	MRX49-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
7270581000172110	CLCN4-gerelateerd X-gebonden syndroom van verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)