Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3643451019 | Familial multiple nevi flammei (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3643452014 | Familial multiple naevi flammei | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3643453016 | Familial multiple port-wine stains | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3643454010 | Familial multiple nevi flammei | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3643455011 | A rare genetic capillary malformation characterised by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in colour and often thicken with age. There is evidence that congenital capillary malformations can be caused by somatic mosaic mutation in the GNAQ gene on chromosome 9q21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3643456012 | A rare genetic capillary malformation characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age. There is evidence that congenital capillary malformations can be caused by somatic mosaic mutation in the GNAQ gene on chromosome 9q21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
944191000172110 | naevus en tache de vin multiples familiaux | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
1010031000172119 | naevus flammeus multiples familiaux | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
935161000172115 | familiale meervoudige wijnvlekken | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
992321000172112 | familiale multipele naevi flammei | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Familial multiple nevi flammei (disorder) | Is a | Familial disease | true | Inferred relationship | Some | ||
Familial multiple nevi flammei (disorder) | Is a | Port-wine stain of skin (disorder) | true | Inferred relationship | Some | ||
Familial multiple nevi flammei (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
Familial multiple nevi flammei (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Familial multiple nevi flammei (disorder) | Finding site | Structure of capillary of skin | true | Inferred relationship | Some | 1 | |
Familial multiple nevi flammei (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Familial multiple nevi flammei (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets