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syndroom van focomelie, trombocytopenie, encephalocele en urogenitale misvormingen (aandoening)
syndroom van focomelie, trombocytopenie, encephalocele en urogenitale misvormingen
syndroom van von Voss-Cherstvoy
DK-focomeliesyndroom
syndroom van focomelie, trombocytopenie, encefalokèle en urogenitale misvormingen
DK phocomelia syndrome
Von Voss-Cherstvoy syndrome
Phocomelia, thrombocytopenia, encephalocele and urogenital malformation syndrome
A very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities and thrombocytopenia. Less than 15 cases have been reported. The spectrum of upper limb defects varies from radial agenesis and phocomelia to amelia. A meningoencephalocele is constant. The intellectual development may be normal. Pathogenesis and cause of this syndrome are unknown. Parental consanguinity reported in a family suggests an autosomal recessive pattern of inheritance.
Id719021005
StatusPrimitive
Associated morphologyherniatie
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect
Finding sitebotstructuur van cranium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
Interpretshemostase
Has interpretationonder referentiebereik
InterpretsPlatelet count
referentieset met complexe 'mapping' naar ICD-10
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