ORPHA:2374
Isolated congenital laryngeal web
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare laryngeal malformation characterized by a membrane-like structure of variable thickness that extends across the laryngeal lumen, between the vocal cords.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated congenital laryngeal web | |
| fr | Palmure congénitale du larynx isolée | |
| de | Larynxnetz, isoliertes kongenitales | Diaphragma laryngis |
| es | Membrana laríngea congénita aislada | |
| it | Membrana laringea congenita isolata | |
| nl | Geïsoleerd congenitaal web van larynx | Geïsoleerd congenitaal laryngeaal web · Geïsoleerd congenitaal larynxweb |
| pt | Teia laringeal congénita isolada | |
| pl | Wrodzona przepona krtani | |
| cs | Rete laryngis | |
| uk | Ізольована вроджена гортанна перетинка | |
| zh | 先天性喉蹼 | |
| tr | Doğumsal laringeal ağ |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 150360 | E | validated | |
| ICD-10 | Q31.0 | E | specific | validated |
| ICD-11 | LA71.Y | NTBT | index | validated |
| MONDO | 0007880 | E | validated | |
| UMLS | C5924995 | E | validated | |
| MedDRA | 10023871 | 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:435609Genetic larynx anomaly
rare genetic diseases - ORPHA:156249Larynx anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 33194889[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0001609 | Hoarse voice | |
| HP:0001601 | Laryngomalacia | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0002098 | Respiratory distress | |
| HP:0010307 | Stridor | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2374
- This record as JSON: /data/d/2374.json