First branchial cleft anomaly
Synonyms: First branchial cleft cyst · First branchial cleft fistula
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare otorhinolaryngological malformation characterized by recurrent infections, swelling, pain, discharge and abscess formation in the defect area. The anomaly results from incomplete fusion of the ventral part of the first and second branchial arch, presenting as either a fistula, sinus or cyst occurring anywhere between the external auditory canal and the mandibular angle, including parotid gland.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | First branchial cleft anomaly | First branchial cleft cyst · First branchial cleft fistula |
| fr | Anomalie de la première fente branchiale | Fistule de la première fente branchiale · Kyste de la première fente branchiale |
| de | Kiemenbogen, 1., Anomalie des | |
| es | Anomalía de la primera hendidura branquial | Fístula de la primera hendidura branquial · Quiste de la primera hendidura branquial |
| it | Schisi del primo arco branchiale | |
| nl | Anomalie van eerste kieuwspleet | Fistel van eerste kieuwspleet · Cyste van eerste kieuwspleet |
| pt | Anomalia da primeira fenda branquial | |
| pl | Anomalia pierwszego łuku skrzelowego | Przetoka pierwszego łuku skrzelowego · Torbiel pierwszego łuku skrzelowego |
| cs | Anomálie první branchiální štěrbiny | Cysta první branchiální štěrbiny · Píštěl první branchiální štěrbiny |
| uk | Аномалія першої зябрової щілини | Перша гілкова щілинна кіста · Перша гілкова щілинна нориця |
| zh | 第一鳃裂畸形 | 第一鳃裂瘘管 |
| tr | İlk brankial yarık anomalisi | Birinci branşiyal yarık kisti · Birinci branşiyal yarık fistülü |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q18.0 | NTBT | attributed | validated |
| ICD-11 | LA6Y | NTBT | index | validated |
| MONDO | 0015376 | E | validated | |
| UMLS | C3874320 | E | validated | |
| GARD | 19934 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:155835Cysts and fistulae of the face and oral cavity
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/141013
- This record as JSON: /data/d/141013.json