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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.
Id720495005
StatusPrimitive
Associated morphologymorfologische afwijking
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map1101
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified