ORPHA:98518
Congenital cranial dysinnervation disorder
Synonyms: CCDD
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital cranial dysinnervation disorder | CCDD |
| fr | Trouble de dysinnervation crânienne congénitale | Syndrome congénital de dysinnervation des nerfs crâniens |
| de | Kongenitales kraniales Dysinnervationssyndrom | = en |
| es | Trastorno congénito de la inervación craneal | = en |
| it | Aplasia dei nuclei e dei nervi cranici | = en |
| nl | Congenitale craniale dysinnervatie-aandoening | = en |
| pt | Aplasia dos núcleos e nervos cranianos | |
| pl | Aplazja nerwu czaszkowego i jądra nerwowego | = en |
| cs | Kraniální nervová a nukleární aplázie | = en |
| uk | Аплазія черепних нервів та ядер | |
| zh | 颅神经与核发育不全 | |
| tr | Kraniyal sinir ve nükleer aplazi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681735 | 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:730382Genetic midbrain-hindbrain malformation
rare genetic diseases - ORPHA:729554Midbrain-Hindbrain malformation
rare developmental anomalies during embryogenesis; rare neurological diseases
Children (8):
- ORPHA:69739Athabaskan brainstem dysgenesis syndrome
- ORPHA:69737Bosley-Salih-Alorainy syndrome
- ORPHA:45358Congenital fibrosis of extraocular muscles
- ORPHA:306530Congenital hereditary facial paralysis-variable hearing loss syndrome
- ORPHA:233Duane retraction syndrome
- ORPHA:306527Isolated hereditary congenital facial paralysis
- ORPHA:570Moebius syndrome
- ORPHA:93293Okihiro 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/98518
- This record as JSON: /data/d/98518.json