26513001: Non-amino organic acidemia AND/OR aciduria (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of organic acid metabolism\Non-amino organic acidemia AND/OR aciduria

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

44395016 Non-amino organic acidemia AND/OR aciduria en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

483249017 Non-amino organic acidaemia AND/OR aciduria en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

756955010 Non-amino organic acidemia AND/OR aciduria (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4207801000005118 organisk acidæmi OG/ELLER aciduri forårsaget af anden syre end aminosyre da Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Non-amino organic acidemia AND/OR aciduria	Is a	Disorder of organic acid metabolism	true	Inferred relationship	Some
Non-amino organic acidemia AND/OR aciduria	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
An inherited disorder of leucine metabolism with characteristics of a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. Patients have a variable clinical phenotype with the vast majority of patients being asymptomatic and a small subgroup displaying symptoms of an organic aciduria, usually in association with environmental triggering factors. This disease is due to mutations in the MCCC1 (3q27.1) or MCCC2 (5q12-q13) genes. Mutations in these genes lead to reduced or absent 3-MCC activity, thereby allowing the toxic byproducts of leucine processing to build up and cause clinical symptoms. Inherited autosomal recessively.	Is a	True	Non-amino organic acidemia AND/OR aciduria	Inferred relationship	Some
Methylcrotonic aciduria	Is a	True	Non-amino organic acidemia AND/OR aciduria	Inferred relationship	Some
Glutaric aciduria	Is a	True	Non-amino organic acidemia AND/OR aciduria	Inferred relationship	Some
Acetyl-CoA: acyltransferase deficiency	Is a	False	Non-amino organic acidemia AND/OR aciduria	Inferred relationship	Some
Methylmalonic acidemia	Is a	True	Non-amino organic acidemia AND/OR aciduria	Inferred relationship	Some
Deficiency of acetyl-coenzyme A carboxylase (disorder)	Is a	True	Non-amino organic acidemia AND/OR aciduria	Inferred relationship	Some
Propionic acidemia	Is a	True	Non-amino organic acidemia AND/OR aciduria	Inferred relationship	Some
Hydroxymethylglutaryl-CoA lyase deficiency	Is a	False	Non-amino organic acidemia AND/OR aciduria	Inferred relationship	Some
Biotinidase deficiency	Is a	False	Non-amino organic acidemia AND/OR aciduria	Inferred relationship	Some
Acetyl-CoA: acyltransferase deficiency	Is a	False	Non-amino organic acidemia AND/OR aciduria	Inferred relationship	Some
Hydroxymethylglutaric aciduria (disorder)	Is a	True	Non-amino organic acidemia AND/OR aciduria	Inferred relationship	Some
Chorea due to inherited organic acidemia (disorder)	Due to	True	Non-amino organic acidemia AND/OR aciduria	Inferred relationship	Some	2

This concept is not in any reference sets