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syndroom van kleine gestalte, craniofaciale afwijkingen en genitale hypoplasie (aandoening)
syndroom van kleine gestalte, craniofaciale afwijkingen en genitale hypoplasie
syndroom van Haspeslagh-Fryns-Muelenaere
Haspeslagh Fryns Muelenaere syndrome
Short stature with craniofacial anomalies and genital hypoplasia syndrome
This syndrome has manifestation of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p.
Id716090004
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van geslachtsorgaan
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitebotstructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified