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724282009: Hypoparathyroidism, deafness, renal disease syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3433585012 Hypoparathyroidism, deafness, renal disease syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3433586013 Hypoparathyroidism, deafness, renal disease syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3433587016 Barakat syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3433588014 HDR (hypoparathyroidism, sensorineural deafness, renal disease) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3433589018 HDR syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3433590010 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core US English: Preferred (foundation metadata concept)
3433591014 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 hypocalcaemia, 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, haematuria, 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a 10p partial monosomy syndrome true Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a Hypoparathyroidism true Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a Sensorineural hearing loss true Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a Congenital hearing disorder true Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Has definitional manifestation Decreased hormone secretion false Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Interprets Functional observable false Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a Decline in functional status (finding) false Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a Decreased hormone secretion true Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Has interpretation Decreased true Inferred relationship Some 5
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Interprets Hormone secretion true Inferred relationship Some 5
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Interprets Hearing true Inferred relationship Some 6
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Finding site Ear structure false Inferred relationship Some 7
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 7
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Occurrence Congenital true Inferred relationship Some 8
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Finding site Chromosome pair 10 (cell structure) true Inferred relationship Some 8
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Associated morphology Deletion of short arm true Inferred relationship Some 8
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Occurrence Congenital true Inferred relationship Some 9
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Finding site Chromosome pair 10 (cell structure) true Inferred relationship Some 9
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 9
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Occurrence Congenital true Inferred relationship Some 10
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Finding site Parathyroid structure true Inferred relationship Some 10
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Occurrence Congenital true Inferred relationship Some 11
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Finding site Kidney structure true Inferred relationship Some 11

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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