Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5142885013 | X-linked intellectual disability, hypotonia, movement disorder syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5142886014 | X-linked intellectual disability, hypotonia, movement disorder syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400352017 | A rare, genetic, syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400353010 | A rare, genetic, syndromic intellectual disability characterised by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioural problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked intellectual disability, hypotonia, movement disorder syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| X-linked intellectual disability, hypotonia, movement disorder syndrome | Is a | X-linked dominant hereditary disease (disorder) | true | Inferred relationship | Some | ||
| X-linked intellectual disability, hypotonia, movement disorder syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability, hypotonia, movement disorder syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability, hypotonia, movement disorder syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability, hypotonia, movement disorder syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability, hypotonia, movement disorder syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability, hypotonia, movement disorder syndrome | 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