ORPHA:183478
Genetic skin vascular disorder
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic skin vascular disorder | |
| fr | Anomalie vasculaire cutanée génétique | |
| de | Hautkrankheit, vaskuläre, genetisch bedingte | |
| es | Enfermedad vascular cutánea genética | |
| it | Malattia vascolare cutanea genetica | |
| nl | Genetische vasculaire huidaandoening | |
| pt | Doença dermatológica vascular, genética | |
| pl | Genetic skin vascular disorder | |
| cs | Geneticky podmíněné poruchy kožních cév | |
| uk | Генетично обумовлене захворювання судин шкіри | |
| zh | 遗传性皮肤血管异常 | |
| tr | Genetik deri vasküler bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15948 | E | validated | |
| UMLS | C5680572 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:183472Genetic dermis disorder
rare genetic diseases
Children (14):
- ORPHA:95429Angioma serpiginosum
- ORPHA:100Ataxia-telangiectasia
- ORPHA:656071Atrophic papulosis
- ORPHA:1059Blue rubber bleb nevus syndrome
- ORPHA:90308Capillary-lymphatic-venous malformation with segmental distribution
- ORPHA:90280Chilblain lupus
- ORPHA:324Fabry disease
- ORPHA:481662Familial Chilblain lupus
- ORPHA:313846Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
- ORPHA:624Familial multiple nevi flammei
- ORPHA:774Hereditary hemorrhagic telangiectasia
- ORPHA:163634Maffucci syndrome
- ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndrome
- ORPHA:90307Parkes Weber syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/183478
- This record as JSON: /data/d/183478.json