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mesomele dysplasie met fibulaire aplasie en driehoekige fibula (aandoening)
mesomele dysplasie met fibulaire aplasie en driehoekige fibula
mesomele dysplasie, Savarirayan-type
Mesomelic dysplasia Savarirayan type
Mesomelic dysplasia with absent fibula and triangular tibia
Severely hypoplastic and triangular-shaped tibiae and absence of the fibulae.Two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia also reported.
Id715652002
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van radius
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur van ulna
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
InterpretsLength of radius
Has interpretationonder referentiebereik
InterpretsLength of ulna
Associated morphologyhypoplasie
Finding sitebotstructuur van tibia
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyagenesie
Finding sitegehele fibula
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ78.8
TermOverige gespecificeerde osteochondrodysplasieën
SNOMED CT to Orphanet simple map85170
SNOMED CT to ICD-10 extended map
TargetQ78.8
RuleTRUE
AdviceALWAYS Q78.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified