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syndroom van retinitis pigmentosa, verstandelijke beperking, doofheid en hypogenitalisme (aandoening)
syndroom van retinitis pigmentosa, verstandelijke beperking, doofheid en hypogenitalisme
syndroom van retinitis pigmentosa, mentale retardatie, doofheid en hypogonadisme
syndroom van retinitis pigmentosa, verstandelijke handicap, doofheid en hypogenitalisme
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
Retinitis pigmentosa, deafness, mental retardation, hypogonadism syndrome
An extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.
Id724001005
StatusPrimitive
Interpretsgehoorfunctie
Associated morphologydystrofie
Finding sitestructuur van retina
Occurrencecongenitaal
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