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 | Reference Sets |
| 293192017 | Galactosaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
| 293193010 | Galactosemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core | US English: Preferred (foundation metadata concept) |
| 574365010 | Galactosemia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
| 938221000052115 | galaktosemi | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) | Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept) |
| 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 | |
| UDPglucose-4-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 | |
| Perinatal jaundice due to galactosaemia | Due to | True | 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 |
This concept is not in any reference sets
FHIR