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syndroom van syndactylie, telecanthus en anogenitale en renale malformatie (aandoening)
syndroom van syndactylie, telecanthus en anogenitale en renale malformatie
syndactylie-telecanthus-anogenitale en renale malformatie-syndroom
STAR-syndroom
STAR syndrome
Syndactyly, telecanthus, anogenital and renal malformation syndrome
STAR (syndactyly, telecanthus, anogenital, renal malformation) syndrome
Syndrome with the association of toe syndactyly, facial dysmorphism including telecanthus and a broad nasal tip, urogenital malformations and anal atresia. Around ten cases have been reported so far. The syndrome is caused by mutations in the FAM58A gene (located on the X chromosome) encoding a protein of unknown function.
Id723581006
StatusPrimitive
Associated morphologyatresie
Finding sitestructuur van anus
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 map140952
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