124663000: aldose-1-epimerasedeficiëntie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of aldose 1-epimerase

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

204878017 Deficiency of mutarotase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
204879013 Deficiency of aldose mutarotase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
204880011 Deficiency of aldose 1-epimerase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
728388015 Deficiency of aldose 1-epimerase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
7075391000146112 aldose-1-epimerasedeficiëntie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7075401000146110 aldose-1-epimerasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7075411000146112 deficiëntie van aldose-1-epimerase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7149571000146113 tekort aan aldose-1-epimerase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of aldose 1-epimerase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of aldose 1-epimerase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
galactosemie door deficiëntie van galactosematurotase	Due to	False	Deficiency of aldose 1-epimerase	Inferred relationship	Some	1

This concept is not in any reference sets