Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) | | 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. | | syndroom van anoftalmie, megalocornea, hartziekte en skeletafwijkingen | | syndroom van Cassia-Stocco-dos Santos syndroom van anoftalmie, megalocornea, hartafwijking en skeletafwijkingen syndroom van anoftalmie, megalocornea, hartaandoening en skeletafwijkingen
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| Id | 720495005 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | 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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