Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3722846018 | X-linked intellectual disability, craniofacioskeletal syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3722847010 | X-linked intellectual disability, craniofacioskeletal syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3722848017 | A rare hereditary syndromic intellectual disability with characteristics of craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have 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, craniofacioskeletal syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| X-linked intellectual disability, craniofacioskeletal syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability, craniofacioskeletal syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability, craniofacioskeletal syndrome | Is a | X-linked hereditary disease | true | Inferred relationship | Some | ||
| X-linked intellectual disability, craniofacioskeletal syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability, craniofacioskeletal syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| X-linked intellectual disability, craniofacioskeletal syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability, craniofacioskeletal syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability, craniofacioskeletal syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability, craniofacioskeletal syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability, craniofacioskeletal syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR