ORPHA:93953
Familial thyroglossal duct cyst
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial thyroglossal duct cyst | |
| fr | Kyste familial du conduit thyréoglosse | |
| de | Fistel, familiäre thyroglossale | |
| es | Quiste del conducto tirogloso familiar | |
| it | Cisti del condotto tireoglosso, forma familiare | |
| nl | Familale ductus thyreoglossuscyste | Familiale mediane halscyste · Familiale schildklierkanaalcyste |
| pt | Quisto do canal tireoglosso, familiar | |
| pl | Rodzinna torbiel przewodu tarczowo-językowego | |
| cs | Familiární cysta ductus thyreoglossus | |
| uk | Сімейна кіста вивідної протоки щитоподібної залози | |
| zh | 家族性甲状舌管囊肿 | |
| tr | Ailesel tiroglossal kanal kisti |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 188455 | E | validated | |
| ICD-10 | Q89.2 | NTBT | attributed | validated |
| ICD-11 | DA05.Y | NTBT | attributed | validated |
| MONDO | 0008565 | E | validated | |
| MeSH | C536909 | E | validated | |
| UMLS | C3495590 | E | validated | |
| GARD | 5204 | 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:95718Congenital thyroid malformation without hypothyroidism
rare endocrine diseases - ORPHA:155835Cysts and fistulae of the face and oral cavity
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | 16012840[PMID]_19344886[PMID]_17457484[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16012840[PMID]_19344886[PMID]_17457484[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/93953
- This record as JSON: /data/d/93953.json