ORPHA:498477
Ectrodactyly with and without other manifestations
- 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 | Ectrodactyly with and without other manifestations | |
| fr | Ectrodactylie avec et sans autres manifestations | |
| de | Ektrodaktylie mit und ohne weitere Manifestationen | |
| es | Ectrodactilia con y sin otras manifestaciones | |
| it | Ectrodattilia con/senza altri segni clinici | |
| nl | Ectrodactylie met en zonder andere manifestaties | |
| pt | Ectrodactilia com e sem outras manifestações | |
| pl | Ektrodaktylia z i bez innych objawów | |
| cs | Ektrodaktylie s/bez dalších manifestací | |
| uk | Ектродактилія з іншими проявами та без них | |
| zh | 先天性缺指合并或不合并其他畸形 | |
| tr | Diğer belirtilerle seyreden ve belirtiler göstermeyen ektrodaktili |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681242 | 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 (2):
- ORPHA:404571Dysostosis of genetic origin with limb anomaly as a major feature
rare genetic diseases - ORPHA:364568Dysostosis with limb anomaly as a major feature
rare developmental anomalies during embryogenesis; rare bone diseases
Children (13):
- ORPHA:978ADULT syndrome
- ORPHA:1406Charlie M syndrome
- ORPHA:1896EEC syndrome
- ORPHA:1897EEM syndrome
- ORPHA:708043Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples
- ORPHA:1892Ectrodactyly-polydactyly syndrome
- ORPHA:1118Fibular aplasia-ectrodactyly syndrome
- ORPHA:1986Gollop-Wolfgang complex
- ORPHA:2117Hartsfield syndrome
- ORPHA:2440Isolated split hand-split foot malformation
- ORPHA:69085Limb-mammary syndrome
- ORPHA:2439Patterson-Stevenson-Fontaine syndrome
- ORPHA:3329Tibial aplasia-ectrodactyly 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/498477
- This record as JSON: /data/d/498477.json