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 |
| 4635391010 | A rare X-linked syndromic intellectual disability with characteristics of intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, hetero and autoaggression) and epilepsy. Progressive neurological symptoms like movement disorders and spasticity along with 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 |
| 4635392015 | A rare X-linked syndromic intellectual disability with characteristics of intellectual disability of variable degree, behavioural anomalies (including autism, mood disorders, obsessive-compulsive behaviour, hetero and autoaggression) and epilepsy. Progressive neurological symptoms like movement disorders and spasticity along with 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 |
| 5317051000052116 | syndrom med CLCN4-relaterad X-bunden intellektuell funktionsnedsättning | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| 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 |
This concept is not in any reference sets
FHIR