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syndroom van focomelie, trombocytopenie, encephalocele en urogenitale misvormingen (aandoening)
syndroom van focomelie, trombocytopenie, encephalocele en urogenitale misvormingen
syndroom van focomelie, trombocytopenie, encefalokèle en urogenitale misvormingen
syndroom van von Voss-Cherstvoy
DK-focomeliesyndroom
DK phocomelia syndrome
Phocomelia, thrombocytopenia, encephalocele and urogenital malformation syndrome
Von Voss-Cherstvoy 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 morphologyfusiedefect
Finding sitebotstructuur van cranium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
InterpretsPlatelet count
Associated morphologyherniatie
Finding sitestructuur van encephalon
Occurrencecongenitaal
Has interpretationafwijkend
Interpretshemostase
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map3439
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