Barakat Syndrome

Preferred Label : Barakat Syndrome;

NCIt related terms : Hypoparathyroidism, Deafness, and Renal Anomalies Syndrome;

Alternative definition : NICHD: A condition characterized by hypoparathyroidism, sensorineural deafness, and renal failure. It is related to autosomal dominant inactivating mutation(s) in GATA3, encoding a transcription factor important for the embryonic development of the parathyroid gland, the auditory stem, and the kidneys.;

Details

Origin ID

C130983;

UMLS CUI

C1840333;

Currated CISMeF NLP mapping
- Barakat syndrome [MedDRA Preferred Term]
- Barakat syndrome [Disease (Nov.)]
- Barakat syndrome [MeSH concept]
- Hypoparathyroidism - deafness - renal disease [ICD-11 More detail]
- 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]
DO Cross reference
- hypoparathyroidism-deafness-renal disease syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Barakat syndrome [MeSH concept]
- Barakat syndrome [MedDRA Preferred Term]
- Barakat syndrome [Disease (Nov.)]
- HDR syndrome [MedDRA LLT]
- 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]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- GATA3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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