124668009: Deficiency of mannose-6-phosphate isomerase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of mannose-6-phosphate isomerase

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

204897017 Deficiency of phosphomannose isomerase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204898010 Deficiency of phosphohexomutase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204899019 Deficiency of phosphohexoisomerase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204900012 Deficiency of mannose-6-phosphate isomerase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728393017 Deficiency of mannose-6-phosphate isomerase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4776821000241118 déficit en mannose-6-phosphate isomerase 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 mannose-6-phosphate isomerase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of mannose-6-phosphate isomerase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombin III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).	Due to	True	Deficiency of mannose-6-phosphate isomerase	Inferred relationship	Some	2

This concept is not in any reference sets