Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 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 |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked intellectual disability Brooks type | Is a | mental retardering | false | Inferred relationship | Some | ||
| X-linked intellectual disability Brooks type | Is a | X-linked hereditary disease (disorder) | false | Inferred relationship | Some | ||
| X-linked intellectual disability Brooks type | Is a | Intellectual disability | false | Inferred relationship | Some | ||
| X-linked intellectual disability Brooks type | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Brooks type | Is a | Developmental hereditary disorder | false | Inferred relationship | Some | ||
| X-linked intellectual disability Brooks type | Interprets | Intellectual ability | false | Inferred relationship | Some | 2 | |
| X-linked intellectual disability Brooks type | Has interpretation | Impaired | false | Inferred relationship | Some | 2 | |
| X-linked intellectual disability Brooks type | Interprets | Adaptation behavior (observable entity) | false | Inferred relationship | Some | 3 | |
| X-linked intellectual disability Brooks type | Has interpretation | Impaired | false | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR