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syndroom van congenitale microgastrie met reductiedefect van extremiteit (aandoening)
syndroom van congenitale microgastrie met reductiedefect van extremiteit
syndroom van congenitaal abnormaal kleine maag met reductiedefect van extremiteit
Congenital microgastria with limb reduction defect syndrome
A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported.
Id721880009
StatusPrimitive
Associated morphologyafwijkend klein
Finding sitegehele maag
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyabnormaal korte lengte
Finding sitegehele extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ40.2
TermOverige gespecificeerde congenitale misvormingen van maag
TargetQ73.8
TermOverige onderontwikkeling van niet gespecificeerde extremiteit(en)
SNOMED CT to Orphanet simple map2538
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