Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-May 2022. Module: SNOMED CT core module
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5045199019 | QRICH1-related intellectual disability, chondrodysplasia syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
5045200016 | Ververi Brady syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
5045201017 | Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
5045202012 | Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Is a | Chondrodysplasia | true | Inferred relationship | Existential restriction modifier | ||
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Is a | Short stature disorder | true | Inferred relationship | Existential restriction modifier | ||
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier | ||
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Interprets | Body height | true | Inferred relationship | Existential restriction modifier | 3 | |
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Has interpretation | Below reference range | true | Inferred relationship | Existential restriction modifier | 3 | |
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Finding site | Bone structure | true | Inferred relationship | Existential restriction modifier | 1 | |
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Existential restriction modifier | 1 | |
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 2 | |
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 2 | |
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 4 | |
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 4 | |
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 5 | |
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets