Terminology Service for NFDI4Health
All terms in SNOMED
| Label | Id | Description |
|---|---|---|
| Tuberculosis of spinal meninges (disorder) | 38115001 | |
| Tuberculosis of spinal cord (disorder) | 447012002 | |
| X-linked sideroblastic anemia with spinocerebellar ataxia (disorder) | 719816006 | [A rare syndromic inherited form of sideroblastic anaemia characterised by mild to moderate anaemia (with hypochromia and microcytosis) and early-onset, non or slowly progressive spinocerebellar ataxia. Caused by mutations in the ABCB7 gene (Xq13.3), encoding a mitochondrial ATP-binding cassette (ABC) transporter protein, which plays a role in heme production and iron homeostasis. A mutation in this gene alters the availability of reduced iron and therefore disrupts heme biosynthesis. The ABCB7 gene is highly expressed in both the bone marrow and the cerebellum, which may explain ataxia. Inherited in an X-linked recessive manner., A rare syndromic inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non or slowly progressive spinocerebellar ataxia. Caused by mutations in the ABCB7 gene (Xq13.3), encoding a mitochondrial ATP-binding cassette (ABC) transporter protein, which plays a role in heme production and iron homeostasis. A mutation in this gene alters the availability of reduced iron and therefore disrupts heme biosynthesis. The ABCB7 gene is highly expressed in both the bone marrow and the cerebellum, which may explain ataxia. Inherited in an X-linked recessive manner.] |
| Salmonella IIIb 13,22:l,v:1,5,7 (organism) | 114359000 | |
| Accidental drowning and submersion while engaged in sport or recreational activity without diving equipment (event) | 217755003 | |
| Open wound of left cheek due to dog bite (disorder) | 10898291000119101 | |
| Biopsy of lesion of eye muscle (procedure) | 172367007 | |
| Capillary oxygen content (observable entity) | 373631004 | |
| Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) | 718720007 | [This syndrome has characteristics of severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphism and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence.] |
| Senecio isatideus (organism) | 52540002 | |
| No view of nasopharynx (finding) | 301205008 | |
| Aspergillus nidulans Group (organism) | 415879008 | |
| Increased pulmonary arterial wedge pressure (finding) | 30261008 | |
| Wrist joint crepitus palpable (finding) | 299020005 | |
| Education about indication for prenatal ultrasound (procedure) | 440227005 | |
| Glucose-6-phosphate dehydrogenase (substance) | 9024005 | |
| Multifocal choroiditis (disorder) | 414783007 | |
| Occlusion of cystic duct (disorder) | 197418006 | |
| Occlusion of bile duct (disorder) | 197446008 | |
| Cone beam computed tomography of nasal sinus (procedure) | 718010009 |