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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
178638013 Disorder of branched-chain amino acid metabolism en Synonym (core metadata concept) Active Only initial character 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
674172017 Disorder of branched-chain amino acid metabolism (disorder) en Fully specified name Active Only initial character 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 Only initial character 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 Only initial character 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
3413041001000119 Verzweigte Aminosäuren-Stoffwechselstörung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
3413041001000119 Verzweigte Aminosäuren-Stoffwechselstörung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained 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 (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of branched-chain amino acid metabolism Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of branched-chain amino acid metabolism Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of branched-chain amino acid metabolism Is a Disorder of amino acid and organic acid metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
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 (core metadata concept)
3-Hydroxyisobutyric aciduria Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Beta-hydroxyisobutyryl-coenzyme A deacylase deficiency Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of acetyl-CoA acetyltransferase Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Methylcrotonyl-CoA carboxylase deficiency Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Propionyl-CoA carboxylase deficiency Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Holocarboxylase synthase deficiency Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Hyperleucinemia (disorder) Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Maple syrup urine disease Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Methylmalonic acidemia Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Hypervalinemia (disorder) Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Intermittent branched-chain ketonuria Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Hyperleucine-isoleucinemia (disorder) Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Hydroxymethylglutaryl-CoA lyase deficiency Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Isovaleryl-CoA dehydrogenase deficiency Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Biotinidase deficiency (disorder) Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Leucinosis Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Isoleucinosis Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Valinosis (disorder) Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Other specified disturbance of branched chain amino acid metabolism Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Propionic acidemia (disorder) Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
déficit en hydroxymethylglutaryl-CoA lyase Is a False Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of isoleucine metabolism (disorder) Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of valine metabolism (disorder) Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
A rare disorder of branched-chain amino acid metabolism with characteristics of childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Caused by homozygous mutation in the BCKDK gene on chromosome 16p11. Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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