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 |
| 767661000241112 | syndrome de la peau parcheminée (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 886831000172110 | syndrome de la peau parcheminée | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Stiff skin syndrome | morphologie associée (attribut) | Fibrosis | true | Inferred relationship | Some | 1 | |
| Stiff skin syndrome | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 1 | |
| Stiff skin syndrome | est un(e) (attribut) | Fibrosis of the skin | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Infantile stiff skin syndrome (disorder) | est un(e) (attribut) | True | Stiff skin syndrome | Inferred relationship | Some |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR