Terminology Service for NFDI4Health
All terms in SNOMED
| Label | Id | Description |
|---|---|---|
| Catel Manzke syndrome (disorder) | 722383001 | [A rare bone disease with anomaly of both index fingers (accessory ossicle at the metacarpophalangeal joint with resulting ulnar deviation) and typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. In 80% of cases, the digital abnormality is associated with Pierre Robin sequence. Additional frequently reported congenital malformations include cardiac defects such as ventricular septal defect and interatrial communication. Homozygous and compound heterozygous mutations in TGDS (13q32.1) have been implicated as causal in this syndrome. Transmission is autosomal recessive. Genetic counselling is recommended., A rare bone disease with anomaly of both index fingers (accessory ossicle at the metacarpophalangeal joint with resulting ulnar deviation) and typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. In 80% of cases, the digital abnormality is associated with Pierre Robin sequence. Additional frequently reported congenital malformations include cardiac defects such as ventricular septal defect and interatrial communication. Homozygous and compound heterozygous mutations in TGDS (13q32.1) have been implicated as causal in this syndrome. Transmission is autosomal recessive. Genetic counseling is recommended.] |
| Product containing probenecid in oral dose form (medicinal product form) | 772702005 | |
| Blood typing, red blood cell antigens from Kx system (International Society of Blood Transfusion 019) (procedure) | 103933008 | |
| Family Craseonycteridae (organism) | 392045008 | |
| Discussion about advance care planning with family member (situation) | 713665009 | |
| Application of long arm splint (procedure) | 433340000 | |
| Obstetric anesthesia with central nervous system complications - delivered (disorder) | 200063000 | |
| Fiberoptic endoscopic laser destruction of lesion of colon (procedure) | 174173004 | |
| Myxobacter-a-lytic proteinase (substance) | 36212002 | |
| Product containing precisely methylergometrine maleate 125 microgram/1 each conventional release oral tablet (clinical drug) | 1204233002 | |
| Compliance with prescribed diet (finding) | 709014002 | |
| Self management of diabetes (procedure) | 878859007 | |
| Hemoglobin Vicksburg (substance) | 16848003 | |
| Product containing precisely ecothiopate iodide 300 microgram/1 milliliter conventional release eye solution (clinical drug) | 784879003 | |
| Dislocations, sprains and strains involving multiple regions of upper limb(s) and lower limb(s) (disorder) | 213372008 | |
| Entire myocardium of anterolateral region (body structure) | 190762001 | |
| Acrocephalopolysyndactyly type IV (disorder) | 733425005 | [Goodman syndrome is an extremely rare genetic disorder with characteristics of marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.] |
| Complete edentulism class II due to caries (disorder) | 1085501000119109 | |
| Intracranial hemorrhage following injury with moderate loss of consciousness (disorder) | 127310009 | |
| Traumatic brain injury with moderate loss of consciousness (disorder) | 127300000 |