Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5422910015 | Autosomal recessive deoxyribonucleic acid repair defect due to DNA polymerase epsilon 2, accessory subunit deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5422911016 | Autosomal recessive DNA repair defect due to POLE2 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5422915013 | Autosomal recessive DNA repair defect due to polymerase-epsilon subunit 2 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5422916014 | Autosomal recessive deoxyribonucleic acid repair defect due to DNA polymerase epsilon 2, accessory subunit deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive deoxyribonucleic acid repair defect due to DNA polymerase epsilon 2, accessory subunit deficiency (disorder) | Is a | Deficiency of DNA repair | true | Inferred relationship | Some | ||
| Autosomal recessive deoxyribonucleic acid repair defect due to DNA polymerase epsilon 2, accessory subunit deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive deoxyribonucleic acid repair defect due to DNA polymerase epsilon 2, accessory subunit deficiency (disorder) | Interprets | Evaluation procedure (procedure) | true | Inferred relationship | Some | 2 | |
| Autosomal recessive deoxyribonucleic acid repair defect due to DNA polymerase epsilon 2, accessory subunit deficiency (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 | |
| Autosomal recessive deoxyribonucleic acid repair defect due to DNA polymerase epsilon 2, accessory subunit deficiency (disorder) | Is a | Combined immunodeficiency disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR