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 |
| 3433585012 | Hypoparathyroidism, deafness, renal disease syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3433586013 | Hypoparathyroidism, deafness, renal disease syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3433587016 | Barakat syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3433588014 | HDR (hypoparathyroidism, sensorineural deafness, renal disease) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3433589018 | HDR syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6361831000146110 | HDR-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6361861000146118 | Barakat-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6361871000146112 | syndroom van Barakat | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6946571000146115 | syndroom van hypoparathyreoïdie, doofheid en nierziekte | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6946581000146118 | syndroom van hypoparathyroïdie, perceptief gehoorverlies en nefropathie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6946591000146116 | syndroom van hypoparathyreoïdie, doofheid en nierziekte (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core 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 |
| 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 |
| 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 | false | 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) | Finding site | Ear structure | false | Inferred relationship | Some | 7 | |
| Hypoparathyroidism, deafness, renal disease syndrome (disorder) | Has definitional manifestation | Decreased hormone secretion | false | Inferred relationship | Some | ||
| Hypoparathyroidism, deafness, renal disease syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 6 | |
| Hypoparathyroidism, deafness, renal disease syndrome (disorder) | Interprets | observatie betreffende functioneren | false | Inferred relationship | Some | ||
| Hypoparathyroidism, deafness, renal disease syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 8 | |
| Hypoparathyroidism, deafness, renal disease syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 9 | |
| Hypoparathyroidism, deafness, renal disease syndrome (disorder) | Occurrence | Congenital | 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 | 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) | Finding site | Parathyroid structure | true | Inferred relationship | Some | 10 | |
| 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) | Finding site | Kidney structure | true | Inferred relationship | Some | 11 | |
| 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) | Is a | Decline in functional status (finding) | false | Inferred relationship | Some | ||
| 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) | Is a | Decreased hormone secretion | false | Inferred relationship | Some | ||
| Hypoparathyroidism, deafness, renal disease syndrome (disorder) | Is a | Congenital nephropathy (disorder) | true | Inferred relationship | Some | ||
| Hypoparathyroidism, deafness, renal disease syndrome (disorder) | Is a | Congenital hearing loss (disorder) | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR