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124427009: Deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
204299013 Deficiency of 3-hydroxyisobutyryl CoA hydrolase en Synonym Active Initial character case insensitive SNOMED CT core
2971137013 Deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
2971325016 Deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase en Synonym Active Initial character case insensitive SNOMED CT core
3332448014 Beta-hydroxyisobutyryl-coenzyme A deacylase deficiency en Synonym Active Initial character case insensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency of 3-hydroxyisobutyryl CoA hydrolase Is a Specific enzyme deficiency true Inferred relationship Some
Deficiency of 3-hydroxyisobutyryl CoA hydrolase Finding site Body system structure false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency Due to True Deficiency of 3-hydroxyisobutyryl CoA hydrolase Inferred relationship Some 1

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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