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 |
| 771771000241112 | syndrome néphrotique-surdité-épidermolyse bulleuse prétibiale (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 916491000172119 | syndrome néphrotique-surdité-épidermolyse bulleuse prétibiale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | est un(e) (attribut) | syndrome néphrotique (trouble) | true | Inferred relationship | Some | ||
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | localisation d'une constatation (attribut) | Glomerulus structure | true | Inferred relationship | Some | 1 | |
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | localisation d'une constatation (attribut) | oreille | true | Inferred relationship | Some | 4 | |
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 5 | |
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | est un(e) (attribut) | Hereditary nephritis (disorder) | true | Inferred relationship | Some | ||
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | morphologie associée (attribut) | Chronic inflammation | true | Inferred relationship | Some | 1 | |
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | est un(e) (attribut) | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 3 | |
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | a pour interprétation (attribut) | au-dessus de l'étendue de référence | true | Inferred relationship | Some | 2 | |
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | interprète (attribut) | Albumin measurement | true | Inferred relationship | Some | 3 | |
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | interprète (attribut) | Measurement of protein in urine (procedure) | true | Inferred relationship | Some | 2 | |
| Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | est un(e) (attribut) | affection de l'oreille | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR