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

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

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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