Terminology Service for NFDI4Health
All terms in SNOMED
| Label | Id | Description |
|---|---|---|
| Distal deletion of long arm of chromosome 3 (disorder) | 897536003 | |
| Electric chorea (disorder) | 61337004 | |
| Injection of botulinum toxin using fluoroscopic guidance (procedure) | 719656005 | |
| Education about fatigue (procedure) | 1153557000 | |
| Solanum malacoxylon (organism) | 112613005 | |
| Motor-potential, function (observable entity) | 251635003 | |
| Severe mood disorder with psychotic features, mood-incongruent (disorder) | 70043001 | |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder) | 773668008 | [A rare inborn error of metabolism disorder with early-onset acute encephalopathic episodes (frequently triggered by viral infections) associated with lactic acidosis and alpha-ketoglutaric aciduria which typically manifest with variable degrees of ataxia, generalised developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma. Caused by homozygous or compound heterozygous mutation in the TPK1 gene on chromosome 7q35., A rare inborn error of metabolism disorder with early-onset acute encephalopathic episodes (frequently triggered by viral infections) associated with lactic acidosis and alpha-ketoglutaric aciduria which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma. Caused by homozygous or compound heterozygous mutation in the TPK1 gene on chromosome 7q35.] |
| Hamilton Anxiety Rating Scale (assessment scale) | 1231454007 | |
| Magnetic resonance angiography of vascular structure of spine with contrast (procedure) | 709567005 | |
| Thioridazine (substance) | 372706001 | |
| Trichothecium roseum (organism) | 18236002 | |
| Allergy to amfepramone (finding) | 293805007 | |
| Saprolegnia parasitica (organism) | 62892001 | |
| Autosomal dominant osteopetrosis type 2 (disorder) | 725050005 | [A sclerosing disorder of the skeleton with increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Onset of the disease is typically in late childhood or adolescence. The main manifestations are confined to the skeleton, including fractures, scoliosis, hip osteoarthritis and osteomyelitis, particularly affecting the mandible in association with dental abscess or caries. The disease is caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene (16p13).] |
| Sigmoidotomy (procedure) | 29065006 | |
| Entire surface of scrotum (body structure) | 728626008 | |
| Entire medial border of scapula (body structure) | 368187009 | |
| Hereditary diffuse carcinoma of stomach (disorder) | 716859000 | [Familial gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer. Familial gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome and Li-Fraumeni syndrome.] |
| Compression hosiery class II thigh length stocking net made to measure (physical object) | 401644008 | [Compression hosiery class II thigh length stocking net made to measure (physical object) serves as the parent of concepts representing an actual manufactured item whose description includes the explicit compression range associated with the class rating for that item.] |