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syndroom van hypoparathyreoïdie, doofheid en nierziekte (aandoening)
syndroom van hypoparathyreoïdie, doofheid en nierziekte
Barakat-syndroom
syndroom van hypoparathyroïdie, perceptief gehoorverlies en nefropathie
syndroom van Barakat
HDR-syndroom
Hypoparathyroidism, deafness, renal disease syndrome
HDR syndrome
HDR (hypoparathyroidism, sensorineural deafness, renal disease) syndrome
Barakat syndrome
An inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease. The exact prevalence is unknown, but the disease is considered to be very rare. Patients may present at any age with hypocalcemia, tetany, or afebrile convulsions. Hearing loss is usually bilateral and may range from mild to profound impairment. Renal disease manifestations include nephrotic syndrome, cystic kidney, renal dysplasia, hypoplasia or aplasia, pelvicalyceal deformity, vesicoureteral reflux, chronic renal failure, hematuria, proteinuria and renal scarring. The defect in the majority of cases was mapped to chromosome 10p (10pter-p13 region or 10p14-p15.1). Haploinsufficiency (deletions) of zinc-finger transcription factor GATA3, or mutations in the GATA3 gene appear to be the underlying cause of this syndrome.
Id724282009
StatusPrimitive
Interpretsgehoorfunctie
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 10
Occurrencecongenitaal
Finding sitestructuur van nier
Occurrencecongenitaal
Has interpretationverlaagd
Interpretshormoonsecretie
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetE20.8
RuleTRUE
AdviceALWAYS E20.8 | 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
TargetN07.9
RuleTRUE
AdviceALWAYS N07.9
CorrelationSNOMED CT source code to target map code correlation not specified