Terminology Service for NFDI4Health
All terms in SNOMED
| Label | Id | Description |
|---|---|---|
| Corneal size and shape anomalies (disorder) | 204143004 | |
| Structure of anterior ligament of head of fibula (body structure) | 302774007 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) | 773498006 | [A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22., A rare hereditary ataxia characterized by early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22.] |
| Pharmacologic (qualifier value) | 56183000 | |
| Clinical statement entry (record artifact) | 423016009 | |
| Compound (qualifier value) | 62105006 | |
| Evacuation of hematoma in obstetric incision (procedure) | 359363006 | |
| Administration of second dose of vaccine product containing only severe acute respiratory syndrome coronavirus 2 recombinant spike protein antigen (procedure) | 1162646009 | |
| Administration of vaccine product containing only severe acute respiratory syndrome coronavirus 2 recombinant spike protein antigen (procedure) | 1162645008 | |
| Type of partial denture connector (attribute) | 278114005 | |
| Excision of vitelline sinus (procedure) | 238240003 | |
| Questionable if patient occupation correct (finding) | 184134007 | |
| Nephrogenic syndrome of inappropriate antidiuresis (disorder) | 723440000 | [A very rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD) characterized by hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. Symptoms are the classical symptoms of hyponatremic encephalopathy such as nausea, vomiting, dizziness and gait disturbances. Caused by a gain of function mutation in the type 2 AVP receptor (AVPR2) gene (location Xq28). This mutation leads to constant activation of the AVPR2 receptor on renal collecting duct cells, which causes an increase in free water reabsorption and an increase in urine concentration. An X-linked disorder affecting mainly males with females often being asymptomatic carriers., A very rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD) characterised by hypotonic hyponatraemia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. Symptoms are the classical symptoms of hyponatraemic encephalopathy such as nausea, vomiting, dizziness and gait disturbances. Caused by a gain of function mutation in the type 2 AVP receptor (AVPR2) gene (location Xq28). This mutation leads to constant activation of the AVPR2 receptor on renal collecting duct cells, which causes an increase in free water reabsorption and an increase in urine concentration. An X-linked disorder affecting mainly males with females often being asymptomatic carriers.] |
| Metastasis to bronchus of unknown primary (disorder) | 285603002 | |
| Post-bacillus Calmette-Guerin vaccination encephalitis (disorder) | 192705005 | |
| Assistive laundry cupboard-dryer (physical object) | 464470007 | |
| Social group 3 - skilled manual (finding) | 266911008 | |
| Rheumatology symptom change (finding) | 170849000 | |
| Entire peripheral nerve of hand (body structure) | 734995003 | |
| Genus Carlavirus (organism) | 423330006 |