brachydactylie
congenitale afwijking van benig skelet
sferofakie
skeletdysplasie
||||
Weill-Marchesani-syndroom (aandoening)
Weill-Marchesani-syndroom
syndroom van Weill-Marchesani
Weill-Marchesani syndrome
Brachydactyly-spherophakia syndrome
Brachymorphy with spherophakia syndrome
Spherophakia-brachymorphia syndrome
Marchesani's syndrome
Id2884008
StatusPrimitive
Associated morphologycongenitale afwijkende ronding
Finding sitestructuur van lens cristallina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyabnormaal korte groei
Finding sitegehele digitus van hand of voet
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map3449
SNOMED CT to ICD-10 extended map
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1
CorrelationSNOMED CT source code to target map code correlation not specified