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124611007: Deficiency of hydroxymethylglutaryl-CoA lyase (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
204748019 Deficiency of hydroxymethylglutaryl-CoA lyase en Synonym Active Initial character case insensitive SNOMED CT core
2475462015 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency en Synonym Active Initial character case insensitive SNOMED CT core
2475463013 HMG-CoA lyase deficiency en Synonym Active Case sensitive SNOMED CT core
728328018 Deficiency of hydroxymethylglutaryl-CoA lyase (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency of hydroxymethylglutaryl-CoA lyase Is a Specific enzyme deficiency true Inferred relationship Some
Deficiency of hydroxymethylglutaryl-CoA lyase Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Deficiency of hydroxymethylglutaryl-CoA lyase Is a Disorder of branched-chain amino acid metabolism true Inferred relationship Some
Deficiency of hydroxymethylglutaryl-CoA lyase Occurrence Congenital true Inferred relationship Some 1
Deficiency of hydroxymethylglutaryl-CoA lyase Is a Inborn error of metabolism true Inferred relationship Some
Deficiency of hydroxymethylglutaryl-CoA lyase Finding site Body system structure false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Hydroxymethylglutaric aciduria Due to True Deficiency of hydroxymethylglutaryl-CoA lyase Inferred relationship Some 1

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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