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


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
204897017 Deficiency of phosphomannose isomerase en Synonym Active Entire term case insensitive SNOMED CT core module
204898010 Deficiency of phosphohexomutase en Synonym Active Entire term case insensitive SNOMED CT core module
204899019 Deficiency of phosphohexoisomerase en Synonym Active Entire term case insensitive SNOMED CT core module
204900012 Deficiency of mannose-6-phosphate isomerase en Synonym Active Entire term case insensitive SNOMED CT core module
728393017 Deficiency of mannose-6-phosphate isomerase (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


0 descendants.

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 Existential restriction modifier
Deficiency of mannose-6-phosphate isomerase Finding site Body system structure false Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group
Mannosephosphate isomerase congenital disorder of glycosylation Due to True Deficiency of mannose-6-phosphate isomerase Inferred relationship Existential restriction modifier 2

This concept is not in any reference sets

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