| syndroom van anoftalmie, megalocornea, hartziekte en skeletafwijkingen (aandoening) | | syndroom van anoftalmie, megalocornea, hartziekte en skeletafwijkingen | | syndroom van anoftalmie, megalocornea, hartaandoening en skeletafwijkingen
syndroom van Cassia-Stocco-dos Santos
syndroom van anoftalmie, megalocornea, hartafwijking en skeletafwijkingen
| | Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome | | Cassia Stocco dos Santos syndrome
| | A multiple congenital anomalies syndrome reported in the offsprings of a consanguineous couple with characteristics of multiple congenital skeletal, muscular, ocular and cardiac abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992. |
| | Id | 720495005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 1101 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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