Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4639195019 | Congenital generalized hypercontractile muscle stiffness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4639198017 | Congenital generalised hypercontractile muscle stiffness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4639199013 | Congenital generalized hypercontractile muscle stiffness syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4639196018 | A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4639197010 | A rare defect of tropomyosin characterised by decreased fetal movements and generalised muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation and variably severe respiratory involvement with hypoxaemia. Muscle biopsy shows mild myopathic features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital generalized hypercontractile muscle stiffness syndrome | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Congenital generalized hypercontractile muscle stiffness syndrome | Is a | Myofibrillar myopathy | true | Inferred relationship | Some | ||
| Congenital generalized hypercontractile muscle stiffness syndrome | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Congenital generalized hypercontractile muscle stiffness syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Congenital generalized hypercontractile muscle stiffness syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Congenital generalized hypercontractile muscle stiffness syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Congenital generalized hypercontractile muscle stiffness syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Congenital generalized hypercontractile muscle stiffness syndrome | Interprets | Body height measure (observable entity) | true | Inferred relationship | Some | 1 | |
| Congenital generalized hypercontractile muscle stiffness syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 1 | |
| Congenital generalized hypercontractile muscle stiffness syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Congenital generalized hypercontractile muscle stiffness syndrome | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR