Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3705354013 | Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3705355014 | Congenital muscular dystrophy with integrin alpha-7 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3705356010 | Congenital muscular dystrophy with ITGA7 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3705357018 | Congenital muscular dystrophy with ITGA7 (integrin alpha-7) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3705358011 | A rare genetic congenital muscular dystrophy due to extracellular matrix protein anomaly. The disease has characteristics of early motor development delay and muscle weakness with mild elevation of serum creatine kinase that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. There is evidence this disease is caused by compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) | Is a | Congenital muscular dystrophy | false | Inferred relationship | Some | ||
| Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) | Is a | Congenital hereditary muscular dystrophy | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR