124297004: hexokinasedeficiëntie (aandoening)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Deficiency of hexokinase

\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Deficiency of hexokinase
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Deficiency of hexokinase
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of hexokinase

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

204006015 Deficiency of hexokinase type IV en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
204007012 Deficiency of hexokinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
727897010 Deficiency of hexokinase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1220690013 Hexokinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1220691012 HK - Hexokinase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6875981000146114 hexokinasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6875991000146111 hexokinasedeficiëntie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7151191000146117 tekort aan hexokinase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8337961000146116 deficiëntie van hexokinase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of hexokinase	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Some
Deficiency of hexokinase	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of hexokinase	Finding site	Erythrocyte	true	Inferred relationship	Some	1
Deficiency of hexokinase	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Deficiency of hexokinase	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Deficiency of hexokinase	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hemolytic anemia due to hexokinase deficiency	Is a	False	Deficiency of hexokinase	Inferred relationship	Some
Hemolytic anemia due to hexokinase deficiency	Associated etiologic finding	False	Deficiency of hexokinase	Inferred relationship	Some
HNSHA due to hexokinase deficiency	Associated etiologic finding	False	Deficiency of hexokinase	Inferred relationship	Some
HNSHA due to hexokinase deficiency	Due to	True	Deficiency of hexokinase	Inferred relationship	Some	6
Hemolytic anemia due to hexokinase deficiency	Due to	True	Deficiency of hexokinase	Inferred relationship	Some	5

This concept is not in any reference sets