ORPHA:93453
Dysostosis with predominant craniofacial involvement
- 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 | Dysostosis with predominant craniofacial involvement | |
| fr | Dysostose craniofaciale | |
| de | Dysostose mit vorwiegend kraniofazialer Beteiligung | |
| es | Disostosis con afectación predominantemente craneofacial | |
| it | Disostosi con prevalente coinvolgimento craniofacciale | |
| nl | Dysostose met overheersende craniofaciale betrokkenheid | |
| pt | Disostose com envolvimento predominantemente craniofacial | |
| pl | Dyzostoza z dominującym udziałem czaszkowo-twarzowym | |
| cs | Dysostózy s predominantním kraniofaciálním postižením | |
| uk | Дизостоз з переважним ураженням черепно-лицьового відділу | |
| zh | 骨发育不全伴颅面受累 | |
| tr | Dominant kraniyofasiyal tutulum ile seyreden disostoz |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD25.3 | E | specific | validated |
| UMLS | C5681592 | 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:364559Dysostosis
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:404568Dysostosis of genetic origin
rare genetic diseases
Children (12):
- ORPHA:1517Cantú syndrome
- ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
- ORPHA:363705Craniofaciofrontodigital syndrome
- ORPHA:3262Dobrow syndrome
- ORPHA:314555Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
- ORPHA:2769Familial osteodysplasia, Anderson type
- ORPHA:250Frontonasal dysplasia
- ORPHA:2549Oculoauriculovertebral spectrum with radial defects
- ORPHA:1794Oculomaxillofacial dysostosis
- ORPHA:140997Orofaciodigital syndrome
- ORPHA:155896Otomandibular dysplasia
- ORPHA:3291Teebi-Shaltout 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/93453
- This record as JSON: /data/d/93453.json