| thoracolaryngopelvische dysplasie (aandoening) | | thoracolaryngopelvische dysplasie | | syndroom van Barnes
| | Thoracolaryngopelvic dysplasia | | Barnes syndrome
Thoracolaryngopelvic dysplasia syndrome
| | A short-rib dysplasia with characteristics of thoracic dystrophy, laryngeal stenosis and a small pelvis. Less than 10 cases have been reported in the literature so far. Patients present with severe respiratory distress (requiring intubation) during the neonatal period. The rib shortening is less severe than in Jeune syndrome and the thorax is characteristically small, narrow and bell-shaped. The pelvis is reduced in all dimensions and the combination of the thorax anomalies and the small pelvis give the appearance of a protruding abdomen. Subglottic stenosis has also been described but it remains unclear whether this is a congenital anomaly or is secondary to long-term intubation. Transmission is autosomal dominant. |
| | Id | 723556008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q77.2 | | Term | Korte-ribsyndroom |
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| SNOMED CT to Orphanet simple map | 3317 |
| SNOMED CT to ICD-10 extended map | | Target | Q77.2 | | Rule | TRUE | | Advice | ALWAYS Q77.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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