Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4635387017 | Raynaud Claes syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4635388010 | Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4635389019 | Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4635390011 | CLCN4-related X-linked intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399390015 | A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399391016 | A rare X-linked syndromic intellectual disability characterised by intellectual disability of variable degree, behavioural anomalies (including autism, mood disorders, obsessive-compulsive behaviour, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) | Is a | X-linked dominant hereditary disease (disorder) | true | Inferred relationship | Some | ||
| Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR