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 |
| 3322290014 | Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 3322291013 | Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3322292018 | Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3322293011 | Cernunnos-XLF deficiency | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3322294017 | Severe combined immunodeficiency due to Cernunnos protein deficiency | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 3322296015 | NHEJ1 (non-homologous end joining factor) syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
| Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome | Is a | Severe combined immunodeficiency with low T- and B-cell numbers | true | Inferred relationship | Existential restriction modifier | ||
| Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome | Is a | Autosomal recessive severe combined immunodeficiency disease | true | Inferred relationship | Existential restriction modifier | ||
| Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome | Finding site | Structure of immune system | false | Inferred relationship | Existential restriction modifier | ||
| Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome | Has definitional manifestation | Immune system finding | false | Inferred relationship | Existential restriction modifier | ||
| Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 3 | |
| Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 3 | |
| Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome | Finding site | Face structure | false | Inferred relationship | Existential restriction modifier | 3 | |
| Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome | Finding site | Structure of immune system | true | Inferred relationship | Existential restriction modifier | 2 | |
| Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
| Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome | Pathological process | Abnormal immune process | true | Inferred relationship | Existential restriction modifier | 3 | |
| Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation 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