|||||||||
syndroom van 46,XX-geslachtsontwikkelingsstoornis en skeletafwijkingen (aandoening)
syndroom van 46,XX-geslachtsontwikkelingsstoornis en skeletafwijkingen
46,XX disorder of sex development with skeletal anomalies syndrome
Female pseudohermaphroditism with skeletal anomalies syndrome
Syndrome that is characterized by primary amenorrhea, ambiguous external genitalia and bone abnormalities for example hypoplasia of the mandibular condyles, hypoplasia of the maxilla, ulnar dislocation of the radial heads. It has been described in two sisters born to consanguineous parents.
Id733621007
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ56.2
RuleTRUE
AdviceALWAYS Q56.2
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ79.9
RuleTRUE
AdviceALWAYS Q79.9
CorrelationSNOMED CT source code to target map code correlation not specified