Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3657922015 | Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3657923013 | Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3657924019 | Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
| 3657925018 | Disease that is characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin replacement. Stem cell transplantation has been reported to be successful. Caused by homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3657926017 | Disease that is characterised by severe microcytic anaemia, B-cell lymphopenia, panhypogammaglobulinaemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin replacement. Stem cell transplantation has been reported to be successful. Caused by homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Pathological process | Abnormal immune process | true | Inferred relationship | Some | 5 | |
| Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Due to | Chromosomal disorder | true | Inferred relationship | Some | 4 | |
| Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Is a | Congenital immunodeficiency disease | true | Inferred relationship | Some | ||
| Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Is a | Immunodeficiency associated with chromosomal abnormality | true | Inferred relationship | Some | ||
| Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Is a | Disorder of immune structure | true | Inferred relationship | Some | ||
| Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Is a | Sideroblastic anaemia | true | Inferred relationship | Some | ||
| Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 1 | |
| Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Interprets | Red blood cell count | true | Inferred relationship | Some | 1 | |
| Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Finding site | Structure of immune system | true | Inferred relationship | Some | 2 | |
| Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Interprets | Measurement of total haemoglobin concentration | true | Inferred relationship | Some | 3 | |
| Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Is a | Hereditary disorder of cellular element of blood | true | Inferred relationship | Some | ||
| Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Is a | Congenital anaemia | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR