ORPHA:370046
Didymosis aplasticosebacea
Synonyms: Aplasia cutis congenita-nevus sebaceus syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare skin disorder characterized by the co-ocurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Didymosis aplasticosebacea | Aplasia cutis congenita-nevus sebaceus syndrome |
| fr | Syndrome d'aplasie cutanée congénitale-naevus sébacé | Didymosis aplasticosebacea |
| de | Didymosis aplasticosebacea | Aplasia cutis congenita-Naevus sebaceus-Syndrom |
| es | Didimosis aplasticosebácea | Síndrome de aplasia cutis congénita-nevo sebáceo |
| it | Didimosi aplastico-sebacea | Sindrome aplasia cutanea congenita-nevo sebaceo |
| nl | Didymosis aplasticosebacea | Aplasia cutis congenita - naevus sebaceus-syndroom |
| pt | Didimose aplasticosebácea | |
| pl | Didimos aplastycznołojowe | Zespół wrodzona aplazja skóry-znamię łojowe |
| cs | Didymosis aplasticosebacea | Syndrom zahrnující aplasia cutis congenita a sebaceózní névus |
| uk | Апластикозний дидимоз | Синдром вродженої аплазії шкірного покриву - невус сальних залоз |
| zh | 先天性皮肤发育不全-皮脂腺痣综合征 | 先天性皮肤发育不全-皮脂腺痣综合征 |
| tr | Didimoz aplastikosebase | Aplazia kutis doğumsal-nevüs sebase sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q84.8 | NTBT | attributed | validated |
| ICD-11 | LC60 | NTBT | attributed | validated |
| MONDO | 0018259 | E | validated | |
| UMLS | C4751600 | 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:294057Rare nevus
rare skin diseases; rare neoplastic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 11385232[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/370046
- This record as JSON: /data/d/370046.json