autosomaal dominante hereditaire aandoening	congenitale nefropathie	gehoorverlies bij syndroom	hereditaire aandoening van auditief systeem	hereditaire aandoening van endocrien systeem	hereditaire nefropathie	hypoparathyreoïdie	perceptief gehoorverlies	syndroom van partiële monosomie 10p
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syndroom van hypoparathyreoïdie, doofheid en nierziekte (aandoening)
	syndroom van hypoparathyreoïdie, doofheid en nierziekte
	syndroom van Barakat HDR-syndroom Barakat-syndroom syndroom van hypoparathyroïdie, perceptief gehoorverlies en nefropathie
	Hypoparathyroidism, deafness, renal disease syndrome
	HDR (hypoparathyroidism, sensorineural deafness, renal disease) syndrome Barakat syndrome HDR 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.

Id	724282009
Status	Primitive

Interprets

Associated morphology	deletie van korte arm van chromosoom
Finding site	chromosomenpaar 10
Occurrence	congenitaal

Associated morphology	partiële monosomie
Finding site	chromosomenpaar 10
Occurrence	congenitaal

Finding site	structuur van bijschildklier
Occurrence	congenitaal

Finding site	structuur van nier
Occurrence	congenitaal

Has interpretation	verlaagd
Interprets	hormoonsecretie

Finding site

structuur van auditief systeem

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.8
Term	Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd

SNOMED CT to Orphanet simple map

2237

SNOMED CT to ICD-10 extended map

Target	E20.8
Rule	TRUE
Advice	ALWAYS E20.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H90.5
Rule	TRUE
Advice	ALWAYS H90.5
Correlation	SNOMED CT source code to target map code correlation not specified

Target	N07.9
Rule	TRUE
Advice	ALWAYS N07.9
Correlation	SNOMED CT source code to target map code correlation not specified