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124680001: Deficiency of methylmalonyl-coenzyme A mutase (disorder)


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
204943016 Deficiency of methylmalonyl-CoA mutase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2970811019 Deficiency of methylmalonyl-coenzyme A mutase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2971533019 Deficiency of methylmalonyl-coenzyme A mutase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency of methylmalonyl-CoA mutase est un(e) (attribut) Specific enzyme deficiency true Inferred relationship Some
Deficiency of methylmalonyl-CoA mutase est un(e) (attribut) Disorder of propionate AND/OR methylmalonate metabolism true Inferred relationship Some
Deficiency of methylmalonyl-CoA mutase est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Deficiency of methylmalonyl-CoA mutase est un(e) (attribut) Inborn error of metabolism true Inferred relationship Some
Deficiency of methylmalonyl-CoA mutase survenue (attribut) congénital true Inferred relationship Some 1
Deficiency of methylmalonyl-CoA mutase localisation d'une constatation (attribut) structure d'un système corporel false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Complete deficiency of methylmalonyl-coenzyme A mutase (disorder) est un(e) (attribut) True Deficiency of methylmalonyl-CoA mutase Inferred relationship Some
Partial deficiency of methylmalonyl-coenzyme A mutase (disorder) est un(e) (attribut) True Deficiency of methylmalonyl-CoA mutase Inferred relationship Some

This concept is not in any reference sets

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