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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Id | http://purl.bioontology.org/ontology/NDFRT/N0000011105
http://purl.bioontology.org/ontology/NDFRT/N0000011105
|
|---|---|
| Preferred Name | Genetic Diseases, Inborn [Disease/Finding] |
| Synonyms |
Genetic Diseases, Inborn
Inborn Genetic Diseases
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Genetic Diseases, Inborn
Inborn Genetic Diseases
|
|---|---|
| prefLabel |
Genetic Diseases, Inborn [Disease/Finding]
|
| notation |
N0000011105
|
| May be treated by | |
| MESH DEFINITION |
Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
|
| MESH UI |
M0385531
|
| subClassOf | |
| Semantic type UMLS property | |
| MeSH name |
Genetic Diseases, Inborn
|
| NDFRT kind |
DISEASE_KIND
|
| type | |
| tui |
T047
|
| NUI |
N0000011105
|
| cui |
C0950123
|
| MESH DUI |
D030342
|
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