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 |
| 3722623018 | Cyclin-dependent kinase-like 5 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3722624012 | CDKL5 (cyclin-dependent kinase-like 5) deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3722625013 | CDKL5 deficiency disorder | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3722626014 | Cyclin-dependent kinase-like 5 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3722628010 | CDKL5-related epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3722627017 | Disease with characteristics of seizures that are resistant to treatment and begin in infancy. Development is impaired most children have severe intellectual disability and little or no speech. Common features include stereotypies, bruxism, disrupted sleep, feeding difficulties and gastrointestinal problems. Some individuals have distinctive facial features including a high and broad forehead, large and deep-set eyes, a well-defined philtrum, high palate. Microcephaly, scoliosis and tapered fingers have also been reported. Caused by mutations in the CDKL5 gene, which disrupts brain development. Inherited in an X-linked dominant pattern. The CDKL5 gene is located on the X chromosome however almost all cases of this condition result from de novo mutations in the CDKL5 gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Cyclin-dependent kinase-like 5 deficiency (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
| Cyclin-dependent kinase-like 5 deficiency (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Cyclin-dependent kinase-like 5 deficiency (disorder) | Is a | Developmental delay | true | Inferred relationship | Some | ||
| Cyclin-dependent kinase-like 5 deficiency (disorder) | Is a | Seizure disorder | true | Inferred relationship | Some | ||
| Cyclin-dependent kinase-like 5 deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| Cyclin-dependent kinase-like 5 deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Cyclin-dependent kinase-like 5 deficiency (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| Cyclin-dependent kinase-like 5 deficiency (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Cyclin-dependent kinase-like 5 deficiency (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Cyclin-dependent kinase-like 5 deficiency (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR