Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3657376010 | Stiff skin syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3657377018 | Stiff skin syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3657378011 | A rare slowly progressive cutaneous disease with characteristics of rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities or visceral, muscular or bone involvement has been described. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4153331000052110 | stiff skin-syndrom | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Stiff skin syndrome | Associated morphology | Fibrosis | true | Inferred relationship | Some | 1 | |
Stiff skin syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
Stiff skin syndrome | Is a | Fibrosis of the skin | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Infantile stiff skin syndrome (disorder) | Is a | True | Stiff skin syndrome | Inferred relationship | Some |
Reference Sets