ORPHA:183484
Genetic subcutaneous tissue 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 subcutaneous tissue disorder | |
| fr | Maladie génétique du tissu sous-cutané | |
| de | Gewebekrankheit, subkutane, genetisch bedingte | |
| es | Enfermedad genética del tejido subcutáneo | |
| it | Malattia genetica del tessuto sottocutaneo | |
| nl | Genetische aandoening van subcutaan weefsel | Genetische aandoening van onderhuids weefsel |
| pt | Doença genética do tecido subcutâneo | |
| pl | Genetic subcutaneous tissue disorder | |
| cs | Geneticky podmíněná onemocnění podkožní tkáně | Geneticky podmíněná onemocnění podkožních tkání |
| uk | Генетично обумовлене захворювання підшкірної клітковини | |
| zh | 遗传性皮下组织异常 | |
| tr | Genetik deri altı doku bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15949 | E | validated | |
| UMLS | C5680570 | 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:68346Rare genetic skin disease
rare genetic diseases
Children (12):
- ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome
- ORPHA:140944CLOVES syndrome
- ORPHA:909Cerebrotendinous xanthomatosis
- ORPHA:2396Encephalocraniocutaneous lipomatosis
- ORPHA:199279Familial angiolipomatosis
- ORPHA:199276Familial multiple lipomatosis
- ORPHA:333Farber disease
- ORPHA:337Fibrodysplasia ossificans progressiva
- ORPHA:98305Genetic lipodystrophy
- ORPHA:468666Isolated generalized anhidrosis with normal sweat glands
- ORPHA:2398Multiple symmetric lipomatosis
- ORPHA:529Roch-Leri mesosomatous lipomatosis
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/183484
- This record as JSON: /data/d/183484.json