Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5025330016 | Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5025331017 | Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5025332012 | Congenital fibre-type disproportion myopathy due to myosin heavy chain 7 mutation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5025333019 | Congenital fiber-type disproportion myopathy due to MYH7 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5025334013 | Congenital fibre-type disproportion myopathy due to MYH7 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5025340018 | Congenital myopathy with fibre-type disproportion associated with the MYH7 (myosin heavy chain 7) gene on the cytogenetic location 14q11.2 inherited in an autosomal dominant manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5025544014 | Congenital myopathy with fiber-type disproportion associated with the MYH7 (myosin heavy chain 7) gene on the cytogenetic location 14q11.2 inherited in an autosomal dominant manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5025330016 | Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5025331017 | Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5025332012 | Congenital fibre-type disproportion myopathy due to myosin heavy chain 7 mutation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5025333019 | Congenital fiber-type disproportion myopathy due to MYH7 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5025334013 | Congenital fibre-type disproportion myopathy due to MYH7 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5025340018 | Congenital myopathy with fibre-type disproportion associated with the MYH7 (myosin heavy chain 7) gene on the cytogenetic location 14q11.2 inherited in an autosomal dominant manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5025544014 | Congenital myopathy with fiber-type disproportion associated with the MYH7 (myosin heavy chain 7) gene on the cytogenetic location 14q11.2 inherited in an autosomal dominant manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets