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syndroom van chondrodysplasie en geslachtsontwikkelingsstoornis (aandoening)
syndroom van chondrodysplasie en geslachtsontwikkelingsstoornis
syndroom van Nivelon-Nivelon-Mabille
Chondrodysplasia with disorder of sex development syndrome
Nivelon Nivelon Mabille syndrome
Chondrodysplasia pseudohermaphroditism syndrome
An extremely rare disorder of sex development, reported in only two siblings to date. The syndrome has clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies, dysmorphic features, muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.
Id720851007
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van gonade
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified