Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3330721019 | Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330722014 | Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330723016 | This syndrome has characteristics of severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Is a | Sensorineural hearing loss | false | Inferred relationship | Some | ||
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Is a | Autosomal dominant retinitis pigmentosa | false | Inferred relationship | Some | ||
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Is a | Short stature disorder | false | Inferred relationship | Some | ||
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Is a | Osteochondrodysplasia | false | Inferred relationship | Some | ||
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Is a | Auditory system hereditary disorder | false | Inferred relationship | Some | ||
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Finding site | Structure of auditory system (body structure) | false | Inferred relationship | Some | 3 | |
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Interprets | Hearing | false | Inferred relationship | Some | 4 | |
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Interprets | Functional observable | false | Inferred relationship | Some | ||
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Associated morphology | Dystrophy | false | Inferred relationship | Some | 7 | |
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Finding site | Retinal structure | false | Inferred relationship | Some | 7 | |
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 8 | |
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 8 | |
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Is a | Congenital anomaly of retina | false | Inferred relationship | Some | ||
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Finding site | Retinal structure | false | Inferred relationship | Some | 2 | |
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Associated morphology | Dystrophy | false | Inferred relationship | Some | 2 | |
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 1 | |
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Associated morphology | Dysplasia | false | Inferred relationship | Some | 1 | |
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Is a | Skeletal dysplasia | false | Inferred relationship | Some | ||
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Is a | Congenital anomaly of skeletal bone | false | Inferred relationship | Some | ||
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Is a | Developmental hereditary disorder | false | Inferred relationship | Some | ||
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) | Interprets | Height / growth measure | false | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
FHIR