Hypoparathyroidism - deafness - renal disease

Preferred Label : Hypoparathyroidism - deafness - renal disease;

ICD-11 definition : Hypoparathyroidism - deafness - renal disease, or HDR syndrome is an inherited condition consisting of hypoparathyroidism, bilateral sensorineural deafness and renal disease (nephrotic syndrome, cystic kidney, renal dysplasia, hypoplasia or aplasia, pelvicalyceal deformity, vesicoureteral reflux, chronic renal failure, hematuria, proteinuria and renal scarring).;

ICD-11 synonym : HDR syndrome; Barakat syndrome; HDR - [Hypoparathyroidism - deafness - renal disease] syndrome;

Details

Origin ID

1390175510;

Currated CISMeF NLP mapping
- Barakat Syndrome [NCIt concept]
- Barakat syndrome [MedDRA Preferred Term]
- Barakat syndrome [MeSH concept]
- Barakat syndrome [Disease (Nov.)]
- Hypoparathyroidism, deafness, renal disease syndrome (disorder) [SNOMED CT concept]
- Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome [OMIM Phenotype]
- Hypoparathyroidism-sensorineural deafness-renal disease syndrome [ORDO Disease]
- barakat syndrome [MeSH Supplementary Concept]
- hypoparathyroidism-deafness-renal disease syndrome [DO Concept]

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