Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4012459017 | Congenital muscular dystrophy type 1D large gene mutation (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4012460010 | Congenital muscular dystrophy type 1D large gene mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5155237019 | Congenital muscular dystrophy type 1D large gene mutation (MDC1D) is an autosomal recessive congenital muscular dystrophy with intellectual disabilities and structural brain abnormalities. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan, collectively known as dystroglycanopathies. Clinical features include severe intellectual disability, hypotonia, developmental delay, contractures, and muscle degeneration. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 7595491000172118 | dystrophie musculaire congénitale de type 1D avec grande mutation génétique | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7595501000172111 | CMD1D - congenital muscular dystrophy type 1D large gene mutation | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7595511000172114 | DMC1D - dystrophie musculaire congénitale de type 1D avec grande mutation génétique | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| 5457141000172111 | congenitale spierdystrofie type 1D door genmutatie van 'LARGE'-gen | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 5457151000172113 | congenitale spierdystrofie type 1D door genetische mutatie van 'LARGE'-gen | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital muscular dystrophy type 1D large gene mutation (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy type 1D large gene mutation (disorder) | Is a | Congenital hereditary muscular dystrophy | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy type 1D large gene mutation (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy type 1D large gene mutation (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy type 1D large gene mutation (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy type 1D large gene mutation (disorder) | Finding site | Skeletal muscle structure (body structure) | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy type 1D large gene mutation (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR