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 |
3498675015 | Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498676019 | Deafness, small bowel diverticulosis, neuropathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498677011 | Groll Hirschowitz syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3499959013 | Syndrome with characteristics of progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). It has been described in five patients (three sisters in a family and two sisters born to consanguineous parents). This syndrome is transmitted as an autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | est un(e) (attribut) | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | est un(e) (attribut) | Peripheral sensory neuropathy (disorder) | true | Inferred relationship | Some | ||
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | est un(e) (attribut) | affection de l'oreille | true | Inferred relationship | Some | ||
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | est un(e) (attribut) | Hereditary sensory neuropathy | true | Inferred relationship | Some | ||
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | est un(e) (attribut) | Sensorineural hearing loss | false | Inferred relationship | Some | ||
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | est un(e) (attribut) | Congenital hearing disorder | false | Inferred relationship | Some | ||
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | est un(e) (attribut) | Disorder of gastrointestinal tract (disorder) | true | Inferred relationship | Some | ||
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | est un(e) (attribut) | atteinte d'un nerf périphérique | false | Inferred relationship | Some | ||
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 4 | |
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | interprète (attribut) | entité observable fonctionnelle | false | Inferred relationship | Some | ||
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 5 | |
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 6 | |
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 7 | |
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | localisation d'une constatation (attribut) | structure du tractus gastro-intestinal | true | Inferred relationship | Some | 7 | |
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | localisation d'une constatation (attribut) | oreille | true | Inferred relationship | Some | 5 | |
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | localisation d'une constatation (attribut) | nerf périphérique (structure corporelle) | true | Inferred relationship | Some | 6 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets