Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5418534013 | Epidermal growth factor-related primary hypomagnesaemia with intellectual disability | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5418535014 | Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5418536010 | EGF-related primary hypomagnesaemia with intellectual disability | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5418537018 | Epidermal growth factor-related primary hypomagnesemia with intellectual disability | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5418538011 | EGF-related primary hypomagnesemia with intellectual disability | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5418539015 | A rare disorder of magnesium transport characterised by hypomagnesaemia due to renal wasting, leading to tetany, early-onset seizures, impaired psychomotor development, and moderate intellectual disability. Secondary hypocalcaemia and obesity are absent. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5418540018 | A rare disorder of magnesium transport characterized by hypomagnesemia due to renal wasting, leading to tetany, early-onset seizures, impaired psychomotor development, and moderate intellectual disability. Secondary hypocalcemia and obesity are absent. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) | Is a | Metabolic renal disease | true | Inferred relationship | Some | ||
| Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) | Is a | Primary hypomagnesemia | true | Inferred relationship | Some | ||
| Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) | Is a | Renal tubular disorder | true | Inferred relationship | Some | ||
| Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) | Finding site | Renal tubule structure (body structure) | true | Inferred relationship | Some | 3 | |
| Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 1 | |
| Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 1 | |
| Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 2 | |
| Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR