Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3773565011 | Merosin-negative congenital muscular dystrophy | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3773566012 | Congenital muscular dystrophy type 1A | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3773567015 | CMD1A - congenital muscular dystrophy type 1A | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3773568013 | Congenital muscular dystrophy due to laminin alpha2 deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3773569017 | Congenital muscular dystrophy type 1A (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
| 3773570016 | MCD1A - muscular congenital dystrophy type 1A | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3773571017 | Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy with characteristics of hypotonia, muscle weakness and muscle wasting. The disease presents at birth or in the first few months of life with hypotonia and muscle weakness in the limbs and trunk. Respiratory and feeding disorders can also occur. Motor development is delayed and limited. Infants present with early rigidity of the vertebral column, scoliosis, and respiratory insufficiency. There is facial involvement with a typical elongated myopathic face and ocular ophthalmoplegia disorders can appear later. Caused by mutations in the LAMA2 gene coding for the alpha-2 laminin chain. Transmission is autosomal recessive. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital muscular dystrophy type 1A | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy type 1A | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy type 1A | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy type 1A | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy type 1A | Is a | Congenital hereditary muscular dystrophy | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy type 1A | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy type 1A | Clinical course | Progressive | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set
FHIR