124361005: Deficiency of 3-mercaptopyruvate sulfurtransferase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\Deficiency of 3-mercaptopyruvate sulfurtransferase

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

204148012 Deficiency of 3-mercaptopyruvate sulfurtransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

473339013 Deficiency of 3-mercaptopyruvate sulphurtransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728037014 Deficiency of 3-mercaptopyruvate sulfurtransferase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4772881000241116 déficit en 3-mercapto-pyruvate sulfure-transférase 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 3-mercaptopyruvate sulfurtransferase	Is a	Deficiency of transferase	true	Inferred relationship	Some
Deficiency of 3-mercaptopyruvate sulfurtransferase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981.	Due to	True	Deficiency of 3-mercaptopyruvate sulfurtransferase	Inferred relationship	Some	1

This concept is not in any reference sets