61451000: homozygoot Negro-type van deficiëntie van galactose-1-fosfaaturidyltransferase (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 Negro-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

102092012 Classical galactosemia, homozygous Negro-type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

499013017 Classical galactosaemia, homozygous Negro-type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

800515019 Classical galactosemia, homozygous Negro-type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

10362231000146111 homozygoot Negro-type van deficiëntie van galactose-1-fosfaaturidyltransferase (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10362241000146115 homozygoot Negro-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)

10362251000146117 homozygoot Negro-type van galactose-1-fosfaaturidyltransferasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10362261000146119 homozygoot Negro-type 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)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Classical galactosemia, homozygous Negro-type	Is a	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	false	Inferred relationship	Some
Classical galactosemia, homozygous Negro-type	Finding site	Body system structure	false	Inferred relationship	Some
Classical galactosemia, homozygous Negro-type	Is a	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	true	Inferred relationship	Some
Classical galactosemia, homozygous Negro-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