ORPHA:183463
Genetic pigmentation anomaly of the skin
- 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 | Genetic pigmentation anomaly of the skin | |
| fr | Anomalie génétique de la pigmentation cutanée | |
| de | Pigmentanomalien der Haut, genetisch bedingte | |
| es | Anomalía genética en la pigmentación de la piel | |
| it | Anomalia della pigmentazione della cute di origine genetica | |
| nl | Genetische pigmentatie-anomalie van huid | |
| pt | Anomalia genética da pigmentação da pele | |
| pl | Zaburzenie pigmentacji skóry uwarunkowane genetycznie | |
| cs | Geneticky podmíněné anomálie pigmentace kůže | |
| uk | Генетично обумовлена аномалія пігментації шкіри | |
| zh | 遗传性皮肤色素沉着异常 | |
| tr | Derinin genetik pigmentasyon anomalisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680578 | 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 (5):
- ORPHA:280628Familial progressive hyper- and hypopigmentation
- ORPHA:183466Genetic hyperpigmentation of the skin
- ORPHA:183469Genetic hypopigmentation of the skin
- ORPHA:2435Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
- ORPHA:447961Pigmentation defects-palmoplantar keratoderma-skin carcinoma 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/183463
- This record as JSON: /data/d/183463.json