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703389002: 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


0 descendants.

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 Mental retardation 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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