ORPHA:183583
Genetic head and neck malformation
- 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 head and neck malformation | |
| fr | Malformation de la tête et du cou d'origine génétique | |
| de | Kopf- und Nackenfehlbildung, genetisch bedingte | |
| es | Malformación de cuello y cabeza de origen genético | |
| it | Malformazione genetica della testa e del collo | |
| nl | Genetische hoofd- en halsmalformatie | |
| pt | Malformação genética da cabeça e pescoço | |
| pl | Wada głowy i szyi uwarunkowana genetycznie | |
| cs | Geneticky podmíněné malformace hlavy a krku | |
| uk | Генетично обумовлена вада розвитку голови та шиї | |
| zh | 遗传性头颈多发畸形 | |
| tr | Genetik baş ve boyun malformasyonu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15961 | E | validated | |
| UMLS | C5680548 | 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:183530Rare genetic developmental defect during embryogenesis
rare genetic diseases
Children (7):
- ORPHA:414726Genetic facial cleft
- ORPHA:435603Genetic otorhinolaryngological malformation
- ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
- ORPHA:156212Hypoglossia/aglossia
- ORPHA:156207Macroglossia
- ORPHA:155896Otomandibular dysplasia
- ORPHA:156224Paralytic facial malformation
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/183583
- This record as JSON: /data/d/183583.json