ORPHA:183542
Genetic cranial 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 cranial malformation | |
| fr | Malformation crânienne d'origine génétique | |
| de | Fehlbildung, kraniale, genetisch bedingte | |
| es | Malformación craneal de origen genético | |
| it | Malformazione genetica del cranio | |
| nl | Genetische craniale malformatie | |
| pt | Malformação genética do crânio | |
| pl | Wada czaszki uwarunkowana genetycznie | |
| cs | Geneticky podmíněné malformace hlavy | Geneticky podmíněné malformace krania |
| uk | Генетично обумовлена вада розвитку черепа | |
| zh | 遗传性颅脑多发畸形 | |
| tr | Genetik kraniyal malformasyon |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680555 | 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 (14):
- ORPHA:974Adams-Oliver syndrome
- ORPHA:1114Aplasia cutis congenita
- ORPHA:1452Cleidocranial dysplasia
- ORPHA:2050Cole-Carpenter syndrome
- ORPHA:1513Craniodiaphyseal dysplasia
- ORPHA:1522Craniometaphyseal dysplasia
- ORPHA:1531Craniosynostosis
- ORPHA:3034Delayed membranous cranial ossification
- ORPHA:60015Enlarged parietal foramina
- ORPHA:1826Frontometaphyseal dysplasia
- ORPHA:1790Hypomandibular faciocranial dysostosis
- ORPHA:77296Morgagni-Stewart-Morel syndrome
- ORPHA:2763Osteocraniostenosis
- ORPHA:2780Osteopathia striata-cranial sclerosis 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/183542
- This record as JSON: /data/d/183542.json