116021002: Disorder of organic acid metabolism (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of organic acid metabolism

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

178635011 Disorder of organic acid metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

674184015 Disorder of organic acid metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3037768012 Organic acid metabolism disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4328521000005113 stofskifteforstyrrelse med organisk syre-ophobning da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of organic acid metabolism	Is a	Metabolic disease	true	Inferred relationship	Some
Disorder of organic acid metabolism	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Disorder of amino acid and organic acid metabolism	Is a	False	Disorder of organic acid metabolism	Inferred relationship	Some
Non-amino organic acidemia AND/OR aciduria	Is a	True	Disorder of organic acid metabolism	Inferred relationship	Some
Disorder of fatty acid metabolism	Is a	True	Disorder of organic acid metabolism	Inferred relationship	Some
Inherited disorder of folate metabolism	Is a	True	Disorder of organic acid metabolism	Inferred relationship	Some
Disorder of propionate AND/OR methylmalonate metabolism	Is a	True	Disorder of organic acid metabolism	Inferred relationship	Some
Disorder of amino acid metabolism	Is a	True	Disorder of organic acid metabolism	Inferred relationship	Some
Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.	Is a	True	Disorder of organic acid metabolism	Inferred relationship	Some

This concept is not in any reference sets