ORPHA:93941
Laryngotracheoesophageal cleft type 4
Synonyms: LTEC IV · LTEC4 · Laryngo-tracheo-esophageal cleft type 4
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Laryngotracheoesophageal cleft type 4 | LTEC IV · LTEC4 · Laryngo-tracheo-esophageal cleft type 4 |
| fr | Fente laryngo-trachéo-oesophagienne type 4 | LTEC IV · LTEC4 |
| de | Laryngo-tracheo-ösophageale Spalte Typ 4 | LTEC IV · LTEC4 |
| es | Hendidura laringotraqueoesofágica tipo 4 | Hendidura laringo-traqueo-esofágica tipo 4 · LTEC IV · LTEC4 |
| it | Schisi laringo-tracheo-esofagea, tipo 4 | LTEC IV · LTEC4 |
| nl | Laryngo-tracheo-oesofageale fissuur type 4 | LTEC IV · LTEC4 |
| pt | Fenda laringotraqueoesofágica tipo 4 | |
| pl | Rozszczep krtaniowo-tchawiczo-przełykowy typu 4 | LTEC4 · LTEC IV |
| cs | Laryngotracheoezofageální rozštěp, typ 4 | LTEC IV · LTEC4 |
| uk | Ларинготрахеостравохідна розщілина, тип 4 | Ларинго-трахео-стравохідна щілина 4 типу · LTEC IV · LTEC4 |
| zh | 喉气管食管裂4型 | 喉-气管-食管裂4型 |
| tr | Laringotrakeoözofageal yarık tip 4 | LTEC4 · LTEC IV · Laringo-trakeo-özofageal yarık tip 4 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q32.1 | NTBT | attributed | validated |
| ICD-11 | LA72 | NTBT | index | validated |
| MONDO | 0019764 | E | validated | |
| UMLS | C0584827 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:2004Laryngotracheoesophageal cleft
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare respiratory diseases; rare surgical thoracic diseases; rare otorhinolaryngological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2005OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome referred to · inactive
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Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
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HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0004326 | Cachexia | |
| HP:0002093 | Respiratory insufficiency | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0002366 | Abnormal lower motor neuron morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0100016 | Abnormality of mesentery morphology | |
| HP:0001743 | Abnormality of the spleen | |
| HP:0011100 | Intestinal atresia | |
| HP:0001601 | Laryngomalacia | |
| HP:0002777 | Tracheal stenosis | |
| HP:0002575 | Tracheoesophageal fistula | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93941
- This record as JSON: /data/d/93941.json