41326006: heterozygote 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, heterozygous 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

68934012 Classical galactosemia, heterozygous type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

492965019 Classical galactosaemia, heterozygous type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

778102012 Classical galactosemia, heterozygous type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

9098991000146115 heterozygote klassieke galactosemie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10362121000146118 heterozygote GALT-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10362141000146112 heterozygote deficiëntie van galactose-1-fosfaaturidyltransferase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10362151000146110 heterozygote deficiëntie van galactose-1-fosfaaturidyltransferase 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
Classical galactosemia, heterozygous type	Is a	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	false	Inferred relationship	Some
Classical galactosemia, heterozygous type	Finding site	Body system structure	false	Inferred relationship	Some
Classical galactosemia, heterozygous type	Is a	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	true	Inferred relationship	Some
Classical galactosemia, heterozygous type	Causative agent	UTP-hexose-1-phosphate uridylyltransferase	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set