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1293018007: Deficiency of methylmalonyl-coenzyme A epimerase (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5277077017 Deficiency of methylmalonyl-coenzyme A epimerase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5277078010 Deficiency of methylmalonyl-CoA racemase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5277079019 Deficiency of methylmalonyl-CoA epimerase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5277080016 Deficiency of methylmalonyl-coenzyme A epimerase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5277081017 Deficiency of methylmalonyl-coenzyme A racemase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency of methylmalonyl-coenzyme A epimerase (disorder) Is a Specific enzyme deficiency true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) Due to True Deficiency of methylmalonyl-coenzyme A epimerase (disorder) Inferred relationship Some 2

Reference Sets

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