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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
178638013 Disorder of branched-chain amino acid metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
674172017 Disorder of branched-chain amino acid metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1220252012 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
888471000052115 rubbning i omsättningen av förgrenade aminosyror sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained 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 Is a Disorder of amino acid metabolism false 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 and organic acid metabolism true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
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
brist på betahydroxiisobutyryl-CoA-deacylas Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Deficiency of acetyl-CoA 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
Hyperleucinemia 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 acidemia Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Hypervalinemia 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
Hyperleucine-isoleucinemia 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
leucinos 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
Other specified disturbance of branched chain amino acid metabolism Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Some
Propionic acidemia 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
Disorder of isoleucine metabolism (disorder) Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Disorder of valine metabolism (disorder) Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some

This concept is not in any reference sets

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