124344007: Deficiency of thiamine pyrophosphokinase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\Deficiency of thiamin pyrophosphokinase

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

204091017 Deficiency of thiamin pyrophosphokinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3769075013 Deficiency of thiamine pyrophosphokinase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3769076014 Deficiency of thiamine pyrophosphokinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204091017 Deficiency of thiamin pyrophosphokinase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204091017 Deficiency of thiamin pyrophosphokinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728001016 Deficiency of thiamin pyrophosphokinase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

728001016 Deficiency of thiamin pyrophosphokinase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3769075013 Deficiency of thiamine pyrophosphokinase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3769076014 Deficiency of thiamine pyrophosphokinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4772701000241115 déficit en thiamine pyrophosphokinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4772701000241115 déficit en thiamine pyrophosphokinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of thiamin pyrophosphokinase	Is a	Deficiency of transferase	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of thiamin pyrophosphokinase	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Due to	True	Deficiency of thiamin pyrophosphokinase	Inferred relationship	Existential restriction modifier (core metadata concept)	2

This concept is not in any reference sets