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124680001: Deficiency of methylmalonyl-coenzyme A mutase (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
204943016 Deficiency of methylmalonyl-CoA mutase en Synonym Active Only initial character case insensitive SNOMED CT core module
2970811019 Deficiency of methylmalonyl-coenzyme A mutase (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
2971533019 Deficiency of methylmalonyl-coenzyme A mutase en Synonym Active Only initial character case insensitive SNOMED CT core module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency of methylmalonyl-coenzyme A mutase Is a Specific enzyme deficiency true Inferred relationship Existential restriction modifier
Deficiency of methylmalonyl-coenzyme A mutase Finding site Body system structure false Inferred relationship Existential restriction modifier
Deficiency of methylmalonyl-coenzyme A mutase Is a Disorder of propionate AND/OR methylmalonate metabolism true Inferred relationship Existential restriction modifier
Deficiency of methylmalonyl-coenzyme A mutase Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Deficiency of methylmalonyl-coenzyme A mutase Is a Inborn error of metabolism true Inferred relationship Existential restriction modifier
Deficiency of methylmalonyl-coenzyme A mutase Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Complete deficiency of methylmalonyl-coenzyme A mutase Is a True Deficiency of methylmalonyl-coenzyme A mutase Inferred relationship Existential restriction modifier
Partial deficiency of methylmalonyl-coenzyme A mutase Is a True Deficiency of methylmalonyl-coenzyme A mutase Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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