ORPHA:183481
Genetic mixed dermis 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 mixed dermis disorder | |
| fr | Anomalie génétique mixte du derme | |
| de | Dermale Krankheit, gemischte, genetisch bedingte | |
| es | Trastorno genético mixto de la dermis | |
| it | Malattia genetica mista del derma | |
| nl | Genetische gemengde lederhuidstoornis | |
| pt | Doença genética mista da derme | |
| pl | Mieszane zaburzenie skóry właściwej uwarunkowane genetycznie | |
| cs | Geneticky podmíněné smíšené poruchy kůže | |
| uk | Генетично обумовлене змішане захворювання дерми | |
| zh | 遗传性混合性真皮异常 | |
| tr | Genetik karma dermis bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680573 | 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 (9):
- ORPHA:974Adams-Oliver syndrome
- ORPHA:1114Aplasia cutis congenita
- ORPHA:1116Aplasia cutis congenita-intestinal lymphangiectasia syndrome
- ORPHA:1117Aplasia cutis-myopia syndrome
- ORPHA:2092Focal dermal hypoplasia
- ORPHA:2556Microphthalmia with linear skin defects syndrome
- ORPHA:1003Scalp defects-postaxial polydactyly syndrome
- ORPHA:2036Scalp-ear-nipple syndrome
- ORPHA:805Tuberous sclerosis complex
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/183481
- This record as JSON: /data/d/183481.json