FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

22886006: Glutaric aciduria, type 2 (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
38413019 Glutaric aciduria, type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
38414013 Ethylmalonic-adipicaciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
38417018 Glutaric acidemia, type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
481457011 Glutaric aciduria type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
481458018 MAD - Multiple acyl-CoA dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
481460016 Glutaric acidaemia, type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
752344016 Glutaric aciduria, type 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4637156012 MADD - multiple acyl-CoA dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
38413019 Glutaric aciduria, type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
38413019 Glutaric aciduria, type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
38414013 Ethylmalonic-adipicaciduria en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
38414013 Ethylmalonic-adipicaciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
38415014 ACAD en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
38416010 GA II en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
38417018 Glutaric acidemia, type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
38417018 Glutaric acidemia, type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
38418011 EMA en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
481457011 Glutaric aciduria type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
481458018 MAD - Multiple acyl-CoA dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
481459014 Multiple acyl-CoA dehydrogenase deficiencies en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
481460016 Glutaric acidaemia, type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
481460016 Glutaric acidaemia, type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
752344016 Glutaric aciduria, type 2 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
752344016 Glutaric aciduria, type 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4637156012 MADD - multiple acyl-CoA dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425171001000118 Acyl-CoA-Dehydrogenase-Mangel, multipler de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4463931000241116 acidurie glutarique de type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4463931000241116 acidurie glutarique de type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3425171001000118 Acyl-CoA-Dehydrogenase-Mangel, multipler de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Glutaric aciduria, type 2 Is a Disorder of fatty acid metabolism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Glutaric aciduria, type 2 Is a Glutaric aciduria true Inferred relationship Existential restriction modifier (core metadata concept)
Glutaric aciduria, type 2 Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Glutaric aciduria, type 2 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Glutaric aciduria, type 2 Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked glutaric aciduria, type 2 Is a False Glutaric aciduria, type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive glutaric aciduria, type 2 Is a False Glutaric aciduria, type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother. Is a False Glutaric aciduria, type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Beta chain electron transfer flavoprotein deficiency (disorder) Is a True Glutaric aciduria, type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Alpha chain electron transfer flavoprotein deficiency Is a True Glutaric aciduria, type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency (disorder) Is a True Glutaric aciduria, type 2 Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start