190745006: Galactosemia (disorder)

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

802131000241112 galactosémie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

911791000172119 galactosémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3444361001000114 Galaktosämie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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
galactosémie avec ictère fœtale	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
A rare disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, while gastrointestinal symptoms or severe liver dysfunction are absent. The natural history of the disease is unknown. Severe complications, such as neurological symptoms, have not been reported under early treatment with a galactose-restricted diet.	Is a	True	Galactosaemia	Inferred relationship	Some
A rare mild form of galactosaemia characterised by early onset of cataract and an absence of the usual signs of classic galactosaemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.	Is a	True	Galactosaemia	Inferred relationship	Some
Early neonatal jaundice due to galactosemia (disorder)	Due to	True	Galactosaemia	Inferred relationship	Some	2

This concept is not in any reference sets