| syndroom van dunne ribben, buisvormige botten en dysmorfie (aandoening) | | syndroom van dunne ribben, buisvormige botten en dysmorfie | | Thin ribs, tubular bones, dysmorphism syndrome | | Sharma Kapoor Ramji syndrome
| | An extremely rare lethal primary bone dysplasia with characteristics of thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990. |
| | Id | 783004003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.5 | | Term | Overige congenitale gestoorde-ontwikkelingssyndromen met overige skeletveranderingen |
|
| SNOMED CT to Orphanet simple map | 1506 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.5 | | Rule | TRUE | | Advice | ALWAYS Q87.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
