Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3315210015 | Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) | en | Fully specified name | Active | Only initial character case insensitive | SNOMED CT core module |
3315211016 | Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
3315212011 | Syndromic X-linked intellectual disability due to JARID1C mutation | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
3315213018 | Syndromic X-linked intellectual disability due to JARID1C (jumonji at-rich interactive domain 1c) mutation | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation | Due to | Genetic mutation | false | Inferred relationship | Existential restriction modifier | 1 | |
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation | Is a | Mental retardation | false | Inferred relationship | Existential restriction modifier | ||
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation | Is a | X-linked hereditary disease | false | Inferred relationship | Existential restriction modifier | ||
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation | Pathological process | Pathological developmental process | false | Inferred relationship | Existential restriction modifier | 2 | |
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Existential restriction modifier | ||
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation | Is a | Multiple system malformation syndrome | true | Inferred relationship | Existential restriction modifier | ||
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 1 | |
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 2 | |
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 2 | |
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 3 | |
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets