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postaxiale 'tetramelic' oligodactylie (aandoening)
postaxiale 'tetramelic' oligodactylie
Postaxial tetramelic oligodactyly
Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.
Id770946000
StatusPrimitive
Associated morphologyafwezigheid
Finding sitegeheel bot van extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur van extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map2730
SNOMED CT to ICD-10 extended map
TargetQ73.8
RuleTRUE
AdviceALWAYS Q73.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified