10899004: homozygote Duarte-variant van klassieke galactosemie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of UTP-hexose-1-phosphate uridylyltransferase\Classical galactosemia, homozygous Duarte-type

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

18918012 Classical galactosemia, homozygous Duarte-type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

332790010 Classical galactosaemia, homozygous Duarte-type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

606980017 Classical galactosemia, homozygous Duarte-type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

8197351000146115 homozygote Duarte-variant van klassieke galactosemie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11228551000146110 homozygote Duarte-variant van klassieke galactosemie (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11228561000146113 homozygote Duarte-variant van GALT-genmutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11228571000146119 homozygoot Duarte-type van deficiëntie van galactose-1-fosfaaturidyltransferase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11228581000146117 homozygoot Duarte-type van deficiëntie van galactose-1-fosfaaturidylyltransferase 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
Classical galactosemia, homozygous Duarte-type	Is a	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	false	Inferred relationship	Some
Classical galactosemia, homozygous Duarte-type	Finding site	Body system structure	false	Inferred relationship	Some
Classical galactosemia, homozygous Duarte-type	Is a	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	true	Inferred relationship	Some
Classical galactosemia, homozygous Duarte-type	Causative agent	UTP-hexose-1-phosphate uridylyltransferase	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets