FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
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 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 (disorder) 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-coenzyme A deacylase deficiency 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
A rare inherited disorder of leucine metabolism characterised by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. 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
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
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
déficit en hydroxymethylglutaryl-CoA lyase Is a False 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
A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine. Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some
A rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported. Is a True Disorder of branched-chain amino acid metabolism Inferred relationship Some

This concept is not in any reference sets

Back to Start