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237911005: Disorder of amino acid and organic 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
356569014 Disorder of amino acid and organic acid metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
626710014 Disorder of amino acid and organic acid metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
887081000172115 trouble du métabolisme des acides aminés et autres acides organiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3453591001000114 Aminosäure/organische Säuren-Stoffwechselstörung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

303 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of amino acid and organic acid metabolism Is a Inborn error of metabolism false Inferred relationship Some
Disorder of amino acid and organic acid metabolism Is a Disorder of organic acid metabolism (disorder) false Inferred relationship Some
Disorder of amino acid and organic acid metabolism Finding site Body system structure false Inferred relationship Some
Disorder of amino acid and organic acid metabolism Occurrence Congenital false Inferred relationship Some
Disorder of amino acid and organic acid metabolism Is a Disorder of amino acid metabolism true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Trimethylaminuria Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Hyper-beta-alaninemia Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Glutaric aciduria Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disorder of amino acid metabolism Is a False Disorder of amino acid and organic acid metabolism Inferred relationship Some
Ethanolaminosis Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Spongy degeneration of central nervous system Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disorders of amino acid transport and metabolism (disorder) Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disorder of threonine metabolism Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disturbance of serine metabolism Is a False Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disorder of glutamine metabolism Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Pipecolic acidemia Is a False Disorder of amino acid and organic acid metabolism Inferred relationship Some
Alaninaemia Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disturbance of other straight chain amino acid metabolism Is a False Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disturbance of other straight chain amino acid metabolism NOS Is a False Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disturbance of other specified amino acid metabolism Is a False Disorder of amino acid and organic acid metabolism Inferred relationship Some
Other disturbances of aromatic amino acid metabolism Is a False Disorder of amino acid and organic acid metabolism Inferred relationship Some
Other specified disturbance of other straight chain amino acid metabolism Is a False Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disorder of branched-chain amino acid metabolism Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disorder of serine metabolism Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disorder of phenylalanine metabolism Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Amino acid transport disorder Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disorder of sulphur-bearing amino acid metabolism Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disorder of the urea cycle metabolism Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disorder of tyrosine metabolism (disorder) Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disorder of proline AND/OR hydroxyproline metabolism Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Inborn error of amino acid metabolism Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disorder of histidine metabolism Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Aminoacidemia Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disorder of tryptophan metabolism Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disorder of glycine metabolism Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disorder of the gamma-glutamyl cycle Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disorder of lysine and hydroxylysine metabolism Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Disorder of beta and omega amino acid metabolism Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Saccharopinuria Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Alpha ketoadipic aciduria (disorder) Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some
A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency. Is a True Disorder of amino acid and organic acid metabolism Inferred relationship Some

This concept is not in any reference sets

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