703389002: verstandelijke beperking gerelateerd aan calcium/calmoduline-afhankelijke serineproteïnekinase (aandoening)

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:

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	mentale retardatie	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

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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
6761261000146118	X-gebonden mentale retardatie type Najm	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6834411000146113	mentale retardatie gerelateerd aan calcium/calmoduline-afhankelijke serineproteïnekinase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7496261000146118	verstandelijke beperking gerelateerd aan calcium/calmoduline-afhankelijke serineproteïnekinase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7690521000146110	verstandelijke beperking gerelateerd aan calcium/calmoduline-afhankelijke serineproteïnekinase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7690531000146112	verstandelijke handicap gerelateerd aan calcium/calmoduline-afhankelijke serineproteïnekinase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)