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syndroom van microcefalie, albinisme en digitale anomalieën (aandoening)
syndroom van microcefalie, albinisme en digitale anomalieën
syndroom van Castro Gago-Pombo-Novo
Microcephalus with albinism and digital anomaly syndrome
Castro Gago Pombo Novo syndrome
Microcephaly with albinism and digital anomaly syndrome
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.
Id719377004
StatusPrimitive
Associated morphologyafwijkend klein
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van kaakregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ02
TermMicrocefalie
TargetE70.3
TermAlbinisme
SNOMED CT to Orphanet simple map2513
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