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\Intelligenzminderung\CASK related intellectual disability

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\CASK related intellectual disability
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\CASK related intellectual disability
\Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\CASK related intellectual disability

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\CASK related intellectual disability
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\CASK related intellectual disability
\Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\CASK related intellectual disability
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\CASK related intellectual disability

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
CASK related intellectual disability	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
CASK related intellectual disability	Is a	retard mental	false	Inferred relationship	Existential restriction modifier (core metadata concept)
CASK related intellectual disability	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
CASK related intellectual disability	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
CASK related intellectual disability	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
CASK related intellectual disability	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
CASK related intellectual disability	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
CASK related intellectual disability	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
CASK related intellectual disability	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
CASK related intellectual disability	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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
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	Only initial character case insensitive (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	Only initial character 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	Only initial character case insensitive (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
3448151001000116	Intelligenzminderung, X-chromosomale, Typ Najm	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5805521000241112	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)	SNOMED CT Switzerland NRC maintained Module
5805531000241114	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)	SNOMED CT Switzerland NRC maintained Module
5805541000241116	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)	SNOMED CT Switzerland NRC maintained Module
5805521000241112	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)	SNOMED CT Switzerland NRC maintained Module
5805531000241114	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)	SNOMED CT Switzerland NRC maintained Module
5805541000241116	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)	SNOMED CT Switzerland NRC maintained Module
3448151001000116	Intelligenzminderung, X-chromosomale, Typ Najm	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module