Terminology Service for NFDI4Health
All terms in SNOMED
| Label | Id | Description |
|---|---|---|
| Blood group antigen Walker (substance) | 115925001 | |
| Entire tracheal bifurcation (body structure) | 361954003 | |
| Entire white rami communicantes (body structure) | 86452001 | |
| Renal tubular dysgenesis due to twin to twin transfusion (disorder) | 1003861008 | |
| Lactate dehydrogenase measurement, lactate to pyruvate method (procedure) | 117247005 | |
| Clutton's joints (disorder) | 19290004 | |
| History of cardiac pacemaker in situ (situation) | 161692001 | |
| X-linked lymphoproliferative disease due to SH2D1A deficiency (disorder) | 1162828001 | [A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells., A rare, genetic, primary immunodeficiency disorder characterised by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, haemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinaemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anaemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.] |
| Urosporidium (organism) | 84277001 | |
| Bone microindentation resistance measurement system (physical object) | 1177158002 | |
| Acquired neutropenia in newborn (disorder) | 191345000 | |
| Specimen from right kidney, superior pole obtained by partial nephrectomy (specimen) | 122679000 | |
| Orthopedic bone caliper (physical object) | 463374009 | |
| History of central serous retinopathy (situation) | 10691841000119107 | |
| History of retinal detachment (situation) | 161487006 | |
| Entire trunk of mandibular nerve (body structure) | 729287001 | |
| Questionable if patient telephone number correct (finding) | 184133001 | |
| Chronic ossifying alveolar periostitis (disorder) | 54389007 | |
| Chronic periostitis of jaw (disorder) | 71746008 | |
| Entire superior longitudinal muscle of tongue (body structure) | 244790006 |