Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| inflammation of heart layer | MONDO_0024636 | [An inflammatory disease involving a pathogenic inflammatory response in the heart layer.] |
| intrinsic cardiomyopathy | MONDO_0000591 | [A cardiomyopathy that is due to abnormalities in heart muscle cells.] |
| stroke outcome severity measurement | EFO_0009603 | [Quantification of the the degree of disability or dependence in the daily activities of people who have suffered a stroke, for example using the Modified Rankin Scale.] |
| Ischemic stroke | HP_0002140 | [Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured.] |
| labyrinthitis | EFO_0009604 | [Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication. [ https://en.wikipedia.org/wiki/Labyrinthitis NCIt:C128369 ], Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication.] |
| inner ear disease | EFO_0009672 | [A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems. [database_cross_reference: NCIt:C27166], A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems.] |
| macular degeneration | EFO_0009606 | [Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration., Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. [ NCIt:P378 ]] |
| retinal degeneration | MONDO_0004580 | [Degeneration of the retina.] |
| obsolete_chondrodysplasia punctata, tibial-metacarpal type | Orphanet_79346 | |
| obsolete_Brachytelephalangic chondrodysplasia punctata | Orphanet_79345 | |
| obsolete_chondrodysplasia punctata, Toriello type | Orphanet_79347 | |
| obsolete_autosomal dominant chondrodysplasia punctata | Orphanet_79344 | |
| Hepatic necrosis | HP_0002605 | [The presence of cell death (necrosis) affecting the liver.] |
| mucin‐16 measurement | EFO_0010609 | [quantification of the amount of stromelysin 1 in a sample] |
| tumor necrosis factor, receptor superfamily, member 5 measurement | EFO_0010607 | [quantification of the amount of tumor necrosis factor receptor superfamily member 5 in a sample] |
| obsolete_GCS1-CDG | Orphanet_79330 | |
| stromelysin‐1 measurement | EFO_0010608 | [quantification of the amount of mucin 16 in a sample] |
| obsolete_COG7-CDG | Orphanet_79333 | |
| brain stem volume measurement | EFO_0010605 | [Quantification of the volume of the brainstem.] |
| obsolete_B4GALT1-CDG | Orphanet_79332 |