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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
178638013 Disorder of branched-chain amino acid metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3036695018 Branched chain amino acid metabolism disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
513191000241117 trouble du métabolisme des acides aminés à chaînes ramifiées (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
674172017 Disorder of branched-chain amino acid metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
985241000172116 trouble du métabolisme des acides aminés à chaînes ramifiées fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)


63 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of branched-chain amino acid metabolism est un(e) (attribut) Disorder of amino acid and organic acid metabolism true Inferred relationship Some
Disorder of branched-chain amino acid metabolism localisation d'une constatation (attribut) structure d'un système corporel false Inferred relationship Some
Disorder of branched-chain amino acid metabolism survenue (attribut) congénital false Inferred relationship Some
Disorder of branched-chain amino acid metabolism est un(e) (attribut) 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 (disorder) est un(e) (attribut) True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) est un(e) (attribut) True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Deficiency of acetyl-CoA acetyltransferase est un(e) (attribut) True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Methylcrotonyl-CoA carboxylase deficiency est un(e) (attribut) True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Propionyl-CoA carboxylase deficiency est un(e) (attribut) False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Holocarboxylase synthase deficiency est un(e) (attribut) False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Hyperleucinemia est un(e) (attribut) True Disorder of branched-chain amino acid metabolism Inferred relationship Some
cétoacidurie à chaines ramifiées est un(e) (attribut) True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Methylmalonic acidaemia est un(e) (attribut) True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Propionic acidemia est un(e) (attribut) True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Hypervalinaemia est un(e) (attribut) False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Intermittent branched-chain ketonuria (disorder) est un(e) (attribut) True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Deficiency of hydroxymethylglutaryl-CoA lyase est un(e) (attribut) True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Hyperleucine-isoleucinemia est un(e) (attribut) True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Hydroxymethylglutaryl-CoA lyase deficiency est un(e) (attribut) False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Isovaleryl-CoA dehydrogenase deficiency est un(e) (attribut) True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Biotinidase deficiency est un(e) (attribut) False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Leucinosis est un(e) (attribut) False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Isoleucinosis (disorder) est un(e) (attribut) False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Valinosis est un(e) (attribut) False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Disorder of isoleucine metabolism (disorder) est un(e) (attribut) True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Disorder of valine metabolism (disorder) est un(e) (attribut) True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Other specified disturbance of branched chain amino acid metabolism (disorder) est un(e) (attribut) False Disorder of branched-chain amino acid metabolism Inferred relationship Some
3-Methylglutaconic aciduria est un(e) (attribut) True Disorder of branched-chain amino acid metabolism Inferred relationship Some
3-Hydroxyisobutyric aciduria est un(e) (attribut) False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Beta-hydroxyisobutyryl-coenzyme A deacylase deficiency (disorder) est un(e) (attribut) False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) est un(e) (attribut) True Disorder of branched-chain amino acid metabolism Inferred relationship Some

This concept is not in any reference sets

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