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 |
| 3314120011 | X-linked neurodegenerative syndrome Hamel type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314121010 | X-linked neurodegenerative syndrome Hamel type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401879016 | An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401880018 | An X-linked syndromic intellectual disability characterised by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked neurodegenerative syndrome Hamel type (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked neurodegenerative syndrome Hamel type (disorder) | Is a | Degenerative disorder | true | Inferred relationship | Some | ||
| X-linked neurodegenerative syndrome Hamel type (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| X-linked neurodegenerative syndrome Hamel type (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
| X-linked neurodegenerative syndrome Hamel type (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| X-linked neurodegenerative syndrome Hamel type (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| X-linked neurodegenerative syndrome Hamel type (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| X-linked neurodegenerative syndrome Hamel type (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked neurodegenerative syndrome Hamel type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked neurodegenerative syndrome Hamel type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| X-linked neurodegenerative syndrome Hamel type (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| X-linked neurodegenerative syndrome Hamel type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| X-linked neurodegenerative syndrome Hamel type (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| X-linked neurodegenerative syndrome Hamel type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR