Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3725375014 | Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3725376010 | Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3725377018 | Nephrotic syndrome, hearing loss, pretibial epidermolysis bullosa syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3725378011 | A rare genetic renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor. There is evidence this syndrome is caused by mutation in the CD151 gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3725379015 | A rare genetic renal disease characterised by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anaemia due to beta-thalassaemia minor. There is evidence this syndrome is caused by mutation in the CD151 gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 916491000172119 | syndrome néphrotique-surdité-épidermolyse bulleuse prétibiale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | Is a | Nephrotic syndrome | true | Inferred relationship | Some | ||
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | Finding site | Glomerulus structure | true | Inferred relationship | Some | 1 | |
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | Finding site | Ear structure | true | Inferred relationship | Some | 4 | |
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | Interprets | Hearing | true | Inferred relationship | Some | 5 | |
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | Is a | Hereditary nephritis (disorder) | true | Inferred relationship | Some | ||
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | Associated morphology | Chronic inflammation | true | Inferred relationship | Some | 1 | |
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | Has interpretation | Above reference range | true | Inferred relationship | Some | 2 | |
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | Interprets | Albumin measurement | true | Inferred relationship | Some | 3 | |
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | Interprets | Measurement of protein in urine (procedure) | true | Inferred relationship | Some | 2 | |
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | Is a | Disorder of ear | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR