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syndroom van geslachtsontwikkelingsstoornis met verstandelijke beperking (aandoening)
syndroom van geslachtsontwikkelingsstoornis met verstandelijke beperking
Verloes-Gillerot-Fryns-syndroom
syndroom van pseudohermafroditisme met verstandelijke beperking
syndroom van Verloes-Gillerot-Fryns
Disorder of sex development with intellectual disability syndrome
Pseudohermaphroditism with intellectual disability syndrome
Verloes Gillerot Fryns syndrome
A rare association of malformations described in only three patients including two siblings. The first patient had profound intellectual deficit and clinical features including short stature, coarse face, deep-set eyes, microphthalmia, large ears, gynoid obesity, imperforate anus, sacral spina bifida, pseudovaginal perineoscrotal hypospadias, persistence of Mullerian structures, and low gonadotrophin levels. His XY sibling was raised as a girl, was slightly mentally impaired and had microphthalmia and large ears and short stature. The third patient had severe hearing loss, ocular colobomata, hypogonadism of central origin, distinct craniofacial features and skeletal anomalies with cervical spina bifida, hyperkyphosis and thoracic deformity. All patients had a normal 46, XY karyotype. Inheritance could be either autosomal recessive or X-linked.
Id719450007
StatusPrimitive
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ56.3
RuleTRUE
AdviceALWAYS Q56.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified