Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
3643452014 | Familial multiple naevi flammei | en | Synonym | Active | Case insensitive | SNOMED CT core |
3643453016 | Familial multiple port-wine stains | en | Synonym | Active | Case insensitive | SNOMED CT core |
3643454010 | Familial multiple nevi flammei | en | Synonym | Active | Case insensitive | 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 | Case sensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Familial multiple naevi flammei | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Familial multiple naevi flammei | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Familial multiple naevi flammei | Is a | Familial disease | true | Inferred relationship | Some | ||
Familial multiple naevi flammei | Is a | Port-wine stain of skin | true | Inferred relationship | Some | ||
Familial multiple naevi flammei | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 1 | |
Familial multiple naevi flammei | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Familial multiple naevi flammei | Finding site | Structure of capillary of skin | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set