Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3303319012 | Familial avascular necrosis of head of femur (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3303321019 | Familial avascular necrosis of head of femur | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3303322014 | Familial avascular necrosis of femoral head | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3303323016 | A severely disabling disease with manifestation of progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty. Familial forms appear to be very rare, with only three families identified so far. Age of onset in these familial cases ranges from 15-48. Transmission in familial cases is autosomal dominant and mutations in the type II collagen gene (COL2A1) have been detected in affected family members. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial avascular necrosis of head of femur (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Familial avascular necrosis of head of femur (disorder) | est un(e) (attribut) | nécrose avasculaire de la tête du fémur | true | Inferred relationship | Some | ||
| Familial avascular necrosis of head of femur (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Familial avascular necrosis of head of femur (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Familial avascular necrosis of head of femur (disorder) | morphologie associée (attribut) | Avascular necrosis | true | Inferred relationship | Some | 1 | |
| Familial avascular necrosis of head of femur (disorder) | localisation d'une constatation (attribut) | tête du fémur | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR