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 |
| 3317989019 | X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3317990011 | X-linked intellectual disability with seizure and psoriasis syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3317991010 | Tranebjaerg Svejgaard syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402213018 | A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402214012 | A rare, X-linked syndromic intellectual disability disorder characterised by severe intellectual disability, psychomotor developmental delay, generalised seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988. | 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 with seizure and psoriasis syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Is a | Seizure disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Is a | Familial psoriasis (disorder) | true | Inferred relationship | Some | ||
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | ||
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Has definitional manifestation | Abnormal keratinization | false | Inferred relationship | Some | ||
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Has definitional manifestation | Seizure | false | Inferred relationship | Some | ||
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Pathological process (attribute) | Hypersensitivity process (qualifier value) | false | Inferred relationship | Some | ||
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Pathological process (attribute) | Hypersensitivity process (qualifier value) | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | false | Inferred relationship | Some | 4 | |
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Is a | Hereditary disorder of immune system | false | Inferred relationship | Some | ||
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| X-linked intellectual disability with seizure and psoriasis syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR