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116020001: Disorder of branched-chain amino acid metabolism (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
1220252012 Disorder of branched chain amino acid metabolism en Synonym Active Case insensitive SNOMED CT core
178638013 Disorder of branched-chain amino acid metabolism en Synonym Active Case insensitive SNOMED CT core
3036695018 Branched chain amino acid metabolism disorder en Synonym Active Case insensitive SNOMED CT core
674172017 Disorder of branched-chain amino acid metabolism (disorder) en Fully specified name Active Case insensitive SNOMED CT core


63 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of branched-chain amino acid metabolism Is a Disorder of amino acid and organic acid metabolism true Inferred relationship Some
Disorder of branched-chain amino acid metabolism Finding site Body system structure false Inferred relationship Some
Disorder of branched-chain amino acid metabolism Occurrence Congenital false Inferred relationship Some
Disorder of branched-chain amino acid metabolism Is a Disorder of amino acid metabolism false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Deficiency of acetyl-coenzyme A acetyltransferase Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Methylcrotonyl-CoA carboxylase deficiency Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Propionyl-CoA carboxylase deficiency Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Holocarboxylase synthase deficiency Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Hyperleucinaemia Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Maple syrup urine disease Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Methylmalonic acidaemia Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Propionic acidaemia Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Hypervalinaemia Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Intermittent branched-chain ketonuria Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Deficiency of hydroxymethylglutaryl-CoA lyase Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Hyperleucine-isoleucinaemia Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Hydroxymethylglutaryl-CoA lyase deficiency Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Isovaleryl-CoA dehydrogenase deficiency Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Biotinidase deficiency Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Leucinosis Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Isoleucinosis Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Valinosis Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Disorder of isoleucine metabolism Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Disorder of valine metabolism Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Other specified disturbance of branched chain amino acid metabolism Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Some
3-Methylglutaconic aciduria Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
3-Hydroxyisobutyric aciduria Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Beta-hydroxyisobutyryl-CoA deacylase deficiency Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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