Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 9742014 | Stiff-man syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 9744010 | Gamma neuron overactivity syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 1231087015 | Moersch-Woltman syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 1231088013 | Stiff man syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5014649018 | Stiff person spectrum disorder (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5014653016 | Stiff person spectrum disorder | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5014654010 | Stiff-person syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 1837861000146118 | Moersch-Woltmann-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 4969131000146115 | 'stiff person'-syndroom (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 4969141000146111 | 'stiff person'-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5014655011 | A rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis. Age of onset peaks around 45 and symptoms develop over months or years. Progressive muscle stiffness renders the trunk and hips immobile and the gait becomes stiff and awkward. The presence of antibodies against glutamic acid decarboxylase (GAD-Abs) in more than 70% of cases suggests an autoimmune pathogenesis. GAD-Abs may block synthesis of the inhibitory neurotransmitter, gamma-aminobutyric acid (GABA) thereby attenuating inhibition of spinal motoneurones. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Stiff person spectrum disorder (disorder) | Is a | Movement disorder | true | Inferred relationship | Some | ||
| Stiff person spectrum disorder (disorder) | Is a | Disorders of spinal neurones manifest by hyperactivity | true | Inferred relationship | Some | ||
| Stiff person spectrum disorder (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | ||
| Stiff person spectrum disorder (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
| Stiff person spectrum disorder (disorder) | Is a | Encephalomyelopathy (disorder) | false | Inferred relationship | Some | ||
| Stiff person spectrum disorder (disorder) | Finding site | Structure of nerve root and/or plexus | true | Inferred relationship | Some | 2 | |
| Stiff person spectrum disorder (disorder) | Interprets | Movement | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Progressive encephalomyelitis with rigidity and myoclonus (disorder) | Is a | True | Stiff person spectrum disorder (disorder) | Inferred relationship | Some |
Reference Sets
Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)
FHIR