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 |
| 6709211000146118 | syndroom van doofheid, diverticulose van dunne darm en neuropathie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6709221000146111 | syndroom van doofheid, diverticulose van dunne darm en neuropathie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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) | Is a | Hereditary sensory neuropathy | true | Inferred relationship | Some | ||
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Is a | Sensorineural hearing loss | false | Inferred relationship | Some | ||
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Is a | Disorder of gastrointestinal tract (disorder) | false | Inferred relationship | Some | ||
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Is a | Peripheral nerve disease | false | Inferred relationship | Some | ||
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Interprets | observatie betreffende functioneren | false | Inferred relationship | Some | ||
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 7 | |
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Finding site | Gastrointestinal tract structure | true | Inferred relationship | Some | 7 | |
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Finding site | Ear structure | true | Inferred relationship | Some | 5 | |
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Finding site | Peripheral nerve structure | true | Inferred relationship | Some | 6 | |
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Is a | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Is a | Peripheral sensory neuropathy (disorder) | true | Inferred relationship | Some | ||
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Is a | Disorder of ear | true | Inferred relationship | Some | ||
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Is a | Disorder of digestive system specific to fetus OR newborn | false | Inferred relationship | Some | ||
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Is a | Congenital disorder of intestine (disorder) | true | Inferred relationship | Some | ||
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Is a | Congenital neurological disorder (disorder) | true | Inferred relationship | Some | ||
| Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Is a | Disorder of sensory function (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR