ORPHA:68346
Rare genetic skin disease
Synonyms: Rare genodermatosis
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare genetic skin disease | Rare genodermatosis |
| fr | Maladie dermatologique rare d'origine génétique | Génodermatose rare |
| de | Hautkrankheit, seltene, genetisch bedingte | Genodermatose, seltene |
| es | Enfermedades de la piel genéticas raras | Genodermatosis rara |
| it | Malattia cutanea genetica rara | Genodermatosi rara |
| nl | Zeldzame genetische huidziekte | Zeldzame genodermatosis |
| pt | Doença dermatológica genética rara | Genodermatose rara |
| pl | Rzadkie genetyczne choroby skóry | Rzadkie genodermatozy |
| cs | Vzácná geneticky podmíněná onemocnění kůže | Vzácná genodermatóza |
| uk | Рідкісне генетично обумовлене захворювання шкіри | Рідкісні генодерматози |
| zh | 罕见遗传性皮肤病 | 罕见遗传性皮肤病 |
| tr | Nadir genetik deri hastalığı | Nadir genodermatoz |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 19043 | E | validated | |
| UMLS | C5680145 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98053Rare genetic disease
rare genetic diseases
Children (14):
- ORPHA:622720Genetic autoinflammatory syndrome with skin involvement
- ORPHA:183472Genetic dermis disorder
- ORPHA:183447Genetic epidermal appendage anomaly
- ORPHA:183426Genetic epidermal disorder
- ORPHA:183494Genetic immune deficiency with skin involvement
- ORPHA:183490Genetic photodermatosis
- ORPHA:183463Genetic pigmentation anomaly of the skin
- ORPHA:183487Genetic skin tumor or hamartoma
- ORPHA:183484Genetic subcutaneous tissue disorder
- ORPHA:182734Genetic urticaria
- ORPHA:79387Metabolic disease with skin involvement
- ORPHA:79389Premature aging
- ORPHA:77240Primary lymphedema
- ORPHA:79385Unclassified genetic skin disorder
Codes that Orphanet moved or referred to this one:
- ORPHA:98696OBSOLETE: Genodermatosis with ocular features referred to · inactive
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/68346
- This record as JSON: /data/d/68346.json