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116020001: Disorder of branched-chain amino acid metabolism (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
178638013 Disorder of branched-chain amino acid metabolism en Synonym Active Entire term case insensitive SNOMED CT core module
674172017 Disorder of branched-chain amino acid metabolism (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1220252012 Disorder of branched chain amino acid metabolism en Synonym Active Entire term case insensitive SNOMED CT core module
3036695018 Branched chain amino acid metabolism disorder en Synonym Active Entire term case insensitive SNOMED CT core module

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 metabolism false Inferred relationship Existential restriction modifier
Disorder of branched-chain amino acid metabolism Finding site Body system structure false Inferred relationship Existential restriction modifier
Disorder of branched-chain amino acid metabolism Occurrence Congenital false Inferred relationship Existential restriction modifier
Disorder of branched-chain amino acid metabolism Is a Disorder of amino acid and organic acid metabolism true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
3-Methylglutaconic aciduria Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
3-Hydroxyisobutyric aciduria Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Beta-hydroxyisobutyryl-coenzyme A deacylase deficiency Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Deficiency of acetyl-coenzyme A acetyltransferase Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Methylcrotonyl-coenzyme A carboxylase deficiency Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Propionyl-CoA carboxylase deficiency Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Holocarboxylase synthase deficiency Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Hyperleucinemia Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Maple syrup urine disease Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Methylmalonic acidemia Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Hypervalinemia Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Intermittent branched-chain ketonuria Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Hyperleucine-isoleucinemia Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Hydroxymethylglutaryl-CoA lyase deficiency Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Isovaleryl-coenzyme A dehydrogenase deficiency Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Biotinidase deficiency Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Leucinosis Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Isoleucinosis Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Valinosis Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Other specified disturbance of branched chain amino acid metabolism Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Propionic acidemia Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Deficiency of hydroxymethylglutaryl-CoA lyase Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Disorder of isoleucine metabolism Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Disorder of valine metabolism Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier
Other specified disturbance of branched chain amino acid metabolism Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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