190745006: galactosemie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of galactose metabolism\Galactosaemia

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

293192017 Galactosaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
293193010 Galactosemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
574365010 Galactosemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
366951000146119 galactosemie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
366961000146116 galactosemie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9310971000146119 Erfelijke stofwisselingsaandoening, die na het eten en drinken van melkproducten leidt tot leveraandoeningen, nieraandoeningen en vertraagde psychomotorische ontwikkeling. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Galactosaemia	Is a	Disorder of galactose metabolism	true	Inferred relationship	Some
Galactosaemia	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Is a	False	Galactosaemia	Inferred relationship	Some
Galactose epimerase deficiency	Is a	True	Galactosaemia	Inferred relationship	Some
Other specified galactosemia	Is a	False	Galactosaemia	Inferred relationship	Some
Galactosemia NOS	Is a	False	Galactosaemia	Inferred relationship	Some
Galactosaemia screening	Has focus	True	Galactosaemia	Inferred relationship	Some	2
Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Is a	False	Galactosaemia	Inferred relationship	Some
perinatale icterus bij galactosemie	Due to	False	Galactosaemia	Inferred relationship	Some	1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Is a	True	Galactosaemia	Inferred relationship	Some
Family history of galactosemia	Associated finding	True	Galactosaemia	Inferred relationship	Some	1
Deficiency of galactose mutarotase	Is a	True	Galactosaemia	Inferred relationship	Some
Deficiency of galactokinase (disorder)	Is a	True	Galactosaemia	Inferred relationship	Some
Early neonatal jaundice due to galactosemia (disorder)	Due to	True	Galactosaemia	Inferred relationship	Some	2
Galactosemia with hypergonadotropic hypogonadism	Is a	True	Galactosaemia	Inferred relationship	Some
galactosemie door deficiëntie van galactosematurotase	Is a	False	Galactosaemia	Inferred relationship	Some

This concept is not in any reference sets