Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Oct 2021. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4650643010 | Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive | SNOMED CT core module |
| 4650644016 | DYRK1A-related intellectual disability syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 4650645015 | Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 4650646019 | DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A)-related intellectual disability syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 4650647011 | DYRK1A syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome | Is a | Genetic disease | true | Inferred relationship | Existential restriction modifier | ||
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 2 | |
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 2 | |
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 3 | |
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | Is a | True | Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome | Inferred relationship | Existential restriction modifier |
This concept is not in any reference sets
FHIR