Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core
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 (core metadata concept) | SNOMED CT core |
| 4650644016 | DYRK1A-related intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4650645015 | Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4650646019 | DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A)-related intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4650647011 | DYRK1A syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4650648018 | A rare genetic syndromic intellectual disability characterised by microcephaly, global developmental delay, mild to severe intellectual disability, impairment of speech, feeding problems, behaviour problems (often autism spectrum disorder) and dysmorphic facial features (such as prominent ears, deep-set eyes, a short nose with a broad nasal tip, and retrognathia with a broad chin). Other, more variable manifestations include seizures, short stature, ocular anomalies, cardiac anomalies, urogenital anomalies and musculoskeletal defects. The disease can be caused by a single nucleotide variant in the DYRK1A gene (21q22.13) or due to a chromosome 22q22.13 (micro)deletion including the DYRK1A gene. Mutations can occur de novo. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4650649014 | A rare genetic syndromic intellectual disability characterized by microcephaly, global developmental delay, mild to severe intellectual disability, impairment of speech, feeding problems, behavior problems (often autism spectrum disorder) and dysmorphic facial features (such as prominent ears, deep-set eyes, a short nose with a broad nasal tip, and retrognathia with a broad chin). Other, more variable manifestations include seizures, short stature, ocular anomalies, cardiac anomalies, urogenital anomalies and musculoskeletal defects. The disease can be caused by a single nucleotide variant in the DYRK1A gene (21q22.13) or due to a chromosome 22q22.13 (micro)deletion including the DYRK1A gene. Mutations can occur de novo. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) | est un(e) (attribut) | Genetic disease | true | Inferred relationship | Some | ||
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 1 | |
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| 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 (disorder) | est un(e) (attribut) | True | Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) | Inferred relationship | Some |
Reference Sets
FHIR