Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3757580017 | RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties) syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3757581018 | RIDDLE syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3757582013 | RNF168 (ring finger protein 168) deficiency | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3757583015 | Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3757584014 | Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome | Is a | Combined immunodeficiency disease | true | Inferred relationship | Existential restriction modifier | ||
| Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome | Is a | Congenital immunodeficiency disease | true | Inferred relationship | Existential restriction modifier | ||
| Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome | Pathological process | Abnormal immune process | true | Inferred relationship | Existential restriction modifier | 2 | |
| Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
| Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR