297238008: deficiëntie van erytrocyt-uridinedifosfaatgalactose-4-epimerase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Galactose epimerase deficiency\Erythrocyte uridine diphosphate galactose-4-epimerase deficiency

\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Galactose epimerase deficiency\Erythrocyte uridine diphosphate galactose-4-epimerase deficiency
\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of galactose metabolism\Galactosaemia\Galactose epimerase deficiency\Erythrocyte uridine diphosphate galactose-4-epimerase deficiency

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

437723011 Erythrocyte uridine diphosphate galactose-4-epimerase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

692548012 Erythrocyte uridine diphosphate galactose-4-epimerase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6865221000146113 deficiëntie van erytrocyt-uridinedifosfaatgalactose-4-epimerase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6918311000146113 erytrocyt-UDP-galactose-4-epimerasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9803061000146116 deficiëntie van erytrocyt-uridinedifosfaatgalactose-4-epimerase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9803071000146110 deficiëntie van erytrocyt-UDP-galactose-4-epimerase nl Synonym (core metadata concept) Active Only initial character 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
Erythrocyte uridine diphosphate galactose-4-epimerase deficiency	Is a	Galactose epimerase deficiency	true	Inferred relationship	Some
Erythrocyte uridine diphosphate galactose-4-epimerase deficiency	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets