703389002: Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3008416015 CASK - Calcium/calmodulin-dependent serine protein kinase related intellectual disability en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3008458017 Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3008495017 Calcium/calmodulin-dependent serine protein kinase related intellectual disability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3008534018 CASK related intellectual disability en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3008535017 X-linked intellectual deficit, Najm type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

10050061000172113 retard mental causée par la CASK (calcium/calmodulin dependent serine protein kinase) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

10050071000172116 déficience intellectuelle causée par la sérine protéine kinase calcium et/ou calmoduline dépendante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

10050081000172118 handicap intellectuel causée par la sérine protéine kinase calcium et/ou calmoduline dépendante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4804521000172114 X-gebonden mentale retardatie type Najm nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4804531000172112 verstandelijke beperking gerelateerd aan calcium/calmoduline-afhankelijke serineproteïnekinase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4804541000172117 mentale retardatie gerelateerd aan calcium/calmoduline-afhankelijke serineproteïnekinase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4804551000172115 verstandelijke handicap gerelateerd aan calcium/calmoduline-afhankelijke serineproteïnekinase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)	Is a	retard mental	false	Inferred relationship	Some
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Some
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3008416015	CASK - Calcium/calmodulin-dependent serine protein kinase related intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3008458017	Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3008495017	Calcium/calmodulin-dependent serine protein kinase related intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3008534018	CASK related intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3008535017	X-linked intellectual deficit, Najm type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10050061000172113	retard mental causée par la CASK (calcium/calmodulin dependent serine protein kinase)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10050071000172116	déficience intellectuelle causée par la sérine protéine kinase calcium et/ou calmoduline dépendante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10050081000172118	handicap intellectuel causée par la sérine protéine kinase calcium et/ou calmoduline dépendante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4804521000172114	X-gebonden mentale retardatie type Najm	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4804531000172112	verstandelijke beperking gerelateerd aan calcium/calmoduline-afhankelijke serineproteïnekinase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4804541000172117	mentale retardatie gerelateerd aan calcium/calmoduline-afhankelijke serineproteïnekinase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4804551000172115	verstandelijke handicap gerelateerd aan calcium/calmoduline-afhankelijke serineproteïnekinase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)