Terminology Service for NFDI4Health
All terms in SNOMED
| Label | Id | Description |
|---|---|---|
| Conventional release rectal suppository (dose form) | 420929008 | |
| Able to dispose of household garbage (finding) | 286092008 | |
| Manual reduction of closed dislocation of shoulder joint under anesthesia (procedure) | 24909002 | |
| 13C urea breath test (procedure) | 408652004 | |
| Domiciliary occupational therapist (occupation) | 224586004 | |
| VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy (disorder) | 1187249005 | [A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity and acquired microcephaly. Seizures, hearing loss, visual impairment and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities., A rare genetic leucodystrophy identified in families of Ashkenazi Jewish descent, characterised by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity and acquired microcephaly. Seizures, hearing loss, visual impairment and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.] |
| Keratoconjunctivitis of bilateral eyes caused by Human alphaherpesvirus 3 (disorder) | 15680281000119103 | |
| Amish nemaline myopathy (disorder) | 1197155007 | [A type of nemaline myopathy only observed in several families of the Amish community. It has a neonatal onset and patients present with hypotonia associated to contractures, a severe pectus carinatum, and tremor that subside after 2-3 months of age. The causative gene is TNNT1 (19q13.4) and transmission follows an autosomal recessive pattern.] |
| Entire tibial vein (body structure) | 732001003 | |
| Red beet extract (substance) | 412290004 | |
| Ballottement of fetal head in suprapubic area (finding) | 289352001 | |
| Non-ketotic hyperglycinemia L protein deficiency (disorder) | 303093006 | |
| Abortion suction system manual aspirator (physical object) | 720367009 | |
| Entire epiphysis of proximal phalanx of finger (body structure) | 729221002 | |
| Derangement of posterior horn of lateral meniscus due to injury of knee (disorder) | 296211000119108 | |
| Product containing only zinc pyrithione (medicinal product) | 777982007 | |
| Pulse fast (finding) | 86651002 | |
| First degree uterine prolapse (disorder) | 48230001 | |
| Metastatic malignant neoplasm to laryngeal surface of epiglottis (disorder) | 94369001 | |
| Endoscopic division of adhesions of peritoneum (procedure) | 264971004 |