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syndroom van nefrotisch syndroom, doofheid en pretibiale epidermolysis bullosa (aandoening)
syndroom van nefrotisch syndroom, doofheid en pretibiale epidermolysis bullosa
nefrotisch syndroom met gehoorverlies en pretibiale epidermolysis bullosa
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome
Nephrotic syndrome, hearing loss, pretibial epidermolysis bullosa syndrome
A rare genetic renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor. There is evidence this syndrome is caused by mutation in the CD151 gene.
Id773647007
StatusPrimitive
Associated morphologychronische ontsteking
Finding sitestructuur van glomerulus
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetN04.9
RuleTRUE
AdviceALWAYS N04.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ81.9
RuleTRUE
AdviceALWAYS Q81.9
CorrelationSNOMED CT source code to target map code correlation not specified