Terminology Service for NFDI4Health
All terms in SNOMED
| Label | Id | Description |
|---|---|---|
| Recovery of memory (finding) | 225443005 | |
| Division of peritoneal band (procedure) | 177988000 | |
| Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder) | 766824003 | [Syndrome with a wide variety of signs and symptoms, hallmark features are intellectual disability and autism spectrum disorder, distinctive facial features and abnormalities of multiple body systems. Present in some cases are hypotonia, feeding difficulties in infancy, gastrooesophageal reflux, vomiting, and constipation. Other features include obesity, seizures, and heart abnormalities. Caused by mutations in the ADNP gene, the protein produced from this gene helps control expression of other genes through chromatin remodelling. Disturbance of this process alters the activity of many genes and disrupts development or function of several of the body's tissues and organs, including the brain. The syndrome results from de novo mutations in the ADNP gene and is not inherited., Syndrome with a wide variety of signs and symptoms, hallmark features are intellectual disability and autism spectrum disorder, distinctive facial features and abnormalities of multiple body systems. Present in some cases are hypotonia, feeding difficulties in infancy, gastroesophageal reflux, vomiting, and constipation. Other features include obesity, seizures, and heart abnormalities. Caused by mutations in the ADNP gene, the protein produced from this gene helps control expression of other genes through chromatin remodeling. Disturbance of this process alters the activity of many genes and disrupts development or function of several of the body's tissues and organs, including the brain. The syndrome results from de novo mutations in the ADNP gene and is not inherited.] |
| Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (disorder) | 725028009 | [A form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1)., A form of congenital disorders of N-linked glycosylation characterised by generalised hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinaemia with generalised oedema and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).] |
| 999.34 (qualifier value) | 896759001 | |
| Subfamily Mystromyinae (organism) | 395476000 | |
| Suprahepatic abscess (disorder) | 235994004 | |
| Product containing efmoroctocog alfa (medicinal product) | 781174009 | |
| Monocular esotropia with noncommitance other than A OR V pattern (disorder) | 80899006 | |
| Intact trigeminal nerve (finding) | 823986007 | |
| Reflux study - dye test (procedure) | 252653006 | |
| Lancefieldella parvula (organism) | 113631003 | |
| Does not use commode (finding) | 284916008 | |
| Transantral ligation of maxillary artery (procedure) | 232487002 | |
| Lymphocyte positive for CD106 antigen (cell) | 117432003 | |
| Size of upper limb (observable entity) | 364465001 | |
| Has patient (attribute) | 25609006 | |
| Product containing precisely ceftriaxone (as ceftriaxone sodium) 500 milligram/1 vial powder for conventional release solution for injection (clinical drug) | 375860009 | |
| Chocolate with filled center (substance) | 229878005 | |
| Penicillium herquei (organism) | 702338009 |