ORPHA:183469
Genetic hypopigmentation 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic hypopigmentation of the skin | |
| fr | Hypopigmentation cutanée génétique | |
| de | Hypopigmentierung der Haut, genetisch bedingte | |
| es | Hipopigmentación genética de la piel | |
| it | Ipopigmentazione della cute di origine genetica | |
| nl | Genetische hypopigmentatie van huid | |
| pt | Hipopigmentação da pele, genética | |
| pl | Hipopigmentacja skóry uwarunkowana genetycznie | |
| cs | Geneticky podmíněné hypopigmentace kůže | |
| uk | Генетично обумовлена гіпопігментація шкіри | |
| zh | 遗传性皮肤色素沉着过多 | |
| tr | Derinin genetik hipopigmentasyonu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680576 | 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:183463Genetic pigmentation anomaly of the skin
rare genetic diseases
Children (13):
- ORPHA:998Albinism-deafness syndrome
- ORPHA:726452Combined immunodeficiency with early gray hairing
- ORPHA:3214Deaf blind hypopigmentation syndrome, Yemenite type
- ORPHA:717846Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome
- ORPHA:55Oculocutaneous albinism
- ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- ORPHA:2885Piebald trait-neurologic defects syndrome
- ORPHA:2884Piebaldism
- ORPHA:284811Syndromic oculocutaneous albinism
- ORPHA:42665Tietz syndrome
- ORPHA:1493Vici syndrome
- ORPHA:3440Waardenburg syndrome
- ORPHA:897Waardenburg-Shah 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/183469
- This record as JSON: /data/d/183469.json