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syndroom van hypergonadotroop hypogonadisme, verstandelijke beperking en skeletafwijking bij man (aandoening)
syndroom van hypergonadotroop hypogonadisme, verstandelijke beperking en skeletafwijking bij man
syndroom van Sohval-Soffer
syndroom van hypergonadotroop hypogonadisme, mentale retardatie en skeletafwijking bij man
syndroom van hypergonadotroop hypogonadisme, verstandelijke handicap en skeletafwijking bij man
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
Sohval Soffer syndrome
This syndrome has characteristics of hypergonadotropic hypogonadism, intellectual deficit, and congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. It has been described in two brothers. Testicular biopsy revealed germinal aplasia and complete seminiferous tubular fibrosis.
Id722459008
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interpretshormoonproductie
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