Terminology Service for NFDI4Health
All terms in SNOMED
| Label | Id | Description |
|---|---|---|
| Diffuse sclerosing papillary thyroid carcinoma (disorder) | 708971008 | |
| Kestrel (organism) | 18013001 | |
| Structure of medial pterygoid plate (body structure) | 415640004 | |
| Osteoclasis of carpal and/or metacarpal bone (procedure) | 18630000 | |
| Brachybacterium tyrofermentans (organism) | 413701001 | |
| Radiant heater temperature (observable entity) | 250884001 | |
| Avian encephalomyelitis virus (organism) | 112366000 | |
| Structure of left biceps brachii muscle (body structure) | 771320000 | |
| Nephrotic syndrome with proliferative glomerulonephritis (disorder) | 197589005 | |
| Chronic trophic ulcer of lower limb (disorder) | 36347008 | |
| Flucytosine (substance) | 387155003 | |
| Thirty minutes after resting (qualifier value) | 707707000 | |
| Dural carotid cavernous fistula (disorder) | 423462008 | |
| Tepidimonas ignava (organism) | 441179008 | |
| Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to protein tyrosine phosphatase receptor type C deficiency (disorder) | 1229941002 | [A rare monogenic primary immunodeficiency disorder with characteristics of lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. Caused by homozygous or compound heterozygous mutation on the CD45 gene on chromosome 1q31.] |
| Hydroperoxide dehydratase (substance) | 130841005 | |
| Entire uterine wall (body structure) | 731119008 | |
| Iron-refractory iron deficiency anemia (disorder) | 722005000 | [A rare autosomal recessive iron metabolism disorder characterised by iron deficiency anaemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. 50 patients from 32 families of different ethnic origin have been described to date; however, it is likely that this condition is underdiagnosed. Most IRIDA patients have no major clinical signs, except for pallor, and have normal growth and development. IRIDA syndrome is due to mutations the TMPRSS6 gene encoding Matriptase 2, a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Transmission is autosomal recessive., A rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. 50 patients from 32 families of different ethnic origin have been described to date; however, it is likely that this condition is underdiagnosed. Most IRIDA patients have no major clinical signs, except for pallor, and have normal growth and development. IRIDA syndrome is due to mutations the TMPRSS6 gene encoding Matriptase 2, a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Transmission is autosomal recessive.] |
| Mesentery reconstruction (procedure) | 120188004 | |
| Drug-induced oral ulceration (disorder) | 403665005 |