Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3313725017 | Isolated autosomal dominant hypomagnesemia Glaudemans type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3313735011 | Isolated autosomal dominant hypomagnesemia Glaudemans type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3330121010 | Isolated autosomal dominant hypomagnesaemia Glaudemans type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5402769014 | Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia, characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402770010 | Isolated autosomal dominant hypomagnesaemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesaemia, characterised by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Isolated autosomal dominant hypomagnesemia Glaudemans type (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Isolated autosomal dominant hypomagnesemia Glaudemans type (disorder) | Is a | Primary hypomagnesemia | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)