ORPHA:435606
Genetic nose and cavum anomaly
- 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 nose and cavum anomaly | |
| fr | Anomalie du nez et du cavum d'origine génétique | |
| de | Nasen- und Nasenrachenraumanomalie, genetisch bedingte | |
| es | Anomalía genética del cavum y la nariz genética | |
| it | Anomalia genetica del naso e del rinofaringe | |
| nl | Genetische anomalie van neus en neusholte | |
| pt | Anomalia genética do nariz e cavum | |
| pl | Wada genetyczna nosa i jamy nosowej | |
| cs | Geneticky podmíněné anomálie nosu a dutin | |
| uk | Генетично обумовлена аномалія носа та порожнини рота | |
| zh | 遗传性鼻和鼻腔异常 | |
| tr | Genetik burun ve kavum anomalisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681174 | 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:435603Genetic otorhinolaryngological malformation
rare genetic diseases
Children (11):
- ORPHA:217266BNAR syndrome
- ORPHA:2695Bifid nose
- ORPHA:1252Blepharonasofacial malformation syndrome
- ORPHA:1200Burn-McKeown syndrome
- ORPHA:589856Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
- ORPHA:451612Familial congenital nasolacrimal duct obstruction
- ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
- ORPHA:137622Intractable diarrhea-choanal atresia-eye anomalies syndrome
- ORPHA:2363Lacrimoauriculodentodigital syndrome
- ORPHA:99141Lymphedema-posterior choanal atresia syndrome
- ORPHA:3026Radial ray hypoplasia-choanal atresia 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/435606
- This record as JSON: /data/d/435606.json