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 |
7644761000172117 | nécrose avasculaire héréditaire de la tête fémorale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
7644771000172114 | nécrose avasculaire de la tête du fémur d'origine familiale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
5515731000172113 | familiale ischemische botnecrose van femurkop | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
5515741000172118 | familiale osteonecrose van caput femoris | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
5515751000172116 | familiale avasculaire necrose van caput femoris | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
5515761000172119 | familiale avasculaire necrose van heupkop | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Familial avascular necrosis of head of femur (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Familial avascular necrosis of head of femur (disorder) | Is a | Osteonecrosis of head of femur | true | Inferred relationship | Some | ||
Familial avascular necrosis of head of femur (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Familial avascular necrosis of head of femur (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Familial avascular necrosis of head of femur (disorder) | Associated morphology | Avascular necrosis | true | Inferred relationship | Some | 1 | |
Familial avascular necrosis of head of femur (disorder) | Finding site | Structure of head of femur | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set