124344007: Deficiency of thiamine pyrophosphokinase (disorder)

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

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

5815201000172113 déficit en thiamine pyrophosphokinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4403061000172116 deficiëntie van thiaminekinase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4403071000172113 deficiëntie van thiaminedifosfokinase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4403081000172111 deficiëntie van thiaminepyrofosfokinase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of thiamine pyrophosphokinase (disorder)	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of thiamine pyrophosphokinase (disorder)	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)	Due to	True	Deficiency of thiamine pyrophosphokinase (disorder)	Inferred relationship	Some	2

This concept is not in any reference sets