Terminology Service for NFDI4Health
All terms in SNOMED
| Label | Id | Description |
|---|---|---|
| Cleft palate with coloboma of eye and deafness syndrome (disorder) | 718574003 | [A multiple congenital anomalies syndrome with manifestations of cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature and radio-ulnar synostosis. To date, 4 cases have been described in the literature. These manifestations overlap with those of CHARGE syndrome, however, in contrast to CHARGE syndrome, patients with Abruzzo-Erikson syndrome do not show intellectual disability, choanal atresia or genital hypoplasia. Inherited in an X-linked recessive manner, with a carrier female having a 50% chance of transmitting the mutation to her offspring.] |
| Polyp size cannot be determined (finding) | 397361006 | |
| Pneumotachograph (physical object) | 258064002 | |
| Delirium caused by substance or medication (disorder) | 722961009 | |
| Deficiency of L-gulonate dehydrogenase (disorder) | 124130006 | |
| Order Bucerotiformes (organism) | 446374008 | |
| Bowen's disease, clonal (disorder) | 403886007 | |
| Carcinoma of descending colon (disorder) | 312113007 | |
| Flood water (environment) | 257614007 | |
| Mistakes people's identity (finding) | 225666004 | |
| Cladosporium langeronii (organism) | 30641000087103 | |
| Snare resection of esophageal lesion (procedure) | 235203005 | |
| Intravenous fluid replacement (procedure) | 281800008 | |
| Quantitative disorder of neutrophils (disorder) | 105601003 | |
| Ether apnea (finding) | 7688001 | |
| Rosenthal fiber (morphologic abnormality) | 84605001 | |
| Cladosporium halotolerans (organism) | 738466007 | |
| Macronucleus (morphologic abnormality) | 6855001 | |
| Intellectual disability nurse (occupation) | 1186914001 | |
| Infection of subungual skin of toe of bilateral feet due to ingrown toenail (disorder) | 16291381000119103 |