Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3446392010 | X-linked intellectual disability Brooks type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3446393017 | X-linked intellectual disability Brooks type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3446394011 | Brooks Wisniewski Brown syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
6744491000146118 | X-gebonden mentale retardatie type Brooks | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7494691000146115 | X-gebonden verstandelijke beperking type Brooks (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7560271000146118 | X-gebonden verstandelijke handicap type Brooks | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7560281000146116 | X-gebonden verstandelijke beperking type Brooks | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3446395012 | A rare X-linked intellectual disability syndrome with characteristics of failure to thrive, speech delay, intellectual disability, muscle hypotonia, spastic diplegia, optic atrophy with myopia and distinct facial features (including triangular face, bifrontal narrowness, deeply set eyes, low-set/cupped ears, prominent nose, short philtrum, and thin upper lip with tented morphology) that can be evident from birth. Additional manifestations reported in some patients include large joint contractures and pectus excavatum (which become more evident with age) and seizures. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
X-linked intellectual disability Brooks type (disorder) | Is a | mentale retardatie | false | Inferred relationship | Some | ||
X-linked intellectual disability Brooks type (disorder) | Is a | X-linked hereditary disease | true | Inferred relationship | Some | ||
X-linked intellectual disability Brooks type (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
X-linked intellectual disability Brooks type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability Brooks type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
X-linked intellectual disability Brooks type (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability Brooks type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
X-linked intellectual disability Brooks type (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
X-linked intellectual disability Brooks type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets