124344007: Deficiency of thiamine pyrophosphokinase (disorder)

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

3802671000005119 thiaminpyrophosphokinasemangel da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish 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	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
A rare inborn error of metabolism disorder with early-onset acute encephalopathic episodes (frequently triggered by viral infections) associated with lactic acidosis and alpha-ketoglutaric aciduria which typically manifest with variable degrees of ataxia, generalised developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma. Caused by homozygous or compound heterozygous mutation in the TPK1 gene on chromosome 7q35.	Due to	True	Deficiency of thiamine pyrophosphokinase (disorder)	Inferred relationship	Some	2

This concept is not in any reference sets