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

1156591005: Fatty acid oxidation defect (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4575323013 Fatty acid oxidation defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4575324019 Fatty acid oxidation defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4575325018 Fatty acid oxidation disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4575326017 FAOD - fatty acid oxidation defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4575323013 Fatty acid oxidation defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4575324019 Fatty acid oxidation defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4575325018 Fatty acid oxidation disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4575326017 FAOD - fatty acid oxidation defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6189001000241117 défaut d'oxydation des acides gras fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6189001000241117 défaut d'oxydation des acides gras fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

22 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Fatty acid oxidation defect (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Fatty acid oxidation defect (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fatty acid oxidation defect (disorder) Is a Disorder of fatty acid metabolism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Acyl-CoA dehydrogenase deficiency Is a True Fatty acid oxidation defect (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Renal carnitine transport defect Is a True Fatty acid oxidation defect (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of 3-hydroxyacyl-CoA dehydrogenase Is a True Fatty acid oxidation defect (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial trifunctional protein deficiency Is a True Fatty acid oxidation defect (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Carnitine palmitoyltransferase I deficiency Is a True Fatty acid oxidation defect (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Carnitine palmitoyltransferase II deficiency (disorder) Is a True Fatty acid oxidation defect (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Carnitine acylcarnitine translocase deficiency Is a True Fatty acid oxidation defect (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A mitochondrial disorder of long chain fatty acid oxidation characterised in most patients by onset in infancy or early childhood with hypoketotic hypoglycaemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy. Caused by the isolated deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase, an enzyme of the mitochondrial trifunctional protein complex (TFP). TFP is a heterooctamer of 4 alpha and 4 beta subunits. The disease is due to mutations in the HADHA gene (2p23) that encodes for the alpha subunit of TFP. Mitochondrial trifunctional protein deficiency is clinically indistinguishable from this disease. Is a True Fatty acid oxidation defect (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive glutaric aciduria, type 2 Is a False Fatty acid oxidation defect (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hydroxymethylglutaric aciduria (disorder) Is a True Fatty acid oxidation defect (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start