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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/N0000003370
http://purl.bioontology.org/ontology/NDFRT/N0000003370
|
|---|---|
| Preferred Name | Piebaldism [Disease/Finding] |
| Synonyms |
Piebald Trait
Albinism, Partial
Piebaldism
Albinism, Cutaneous
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Piebald Trait
Albinism, Partial
Piebaldism
Albinism, Cutaneous
|
|---|---|
| prefLabel |
Piebaldism [Disease/Finding]
|
| notation |
N0000003370
|
| MESH DEFINITION |
Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.
|
| MESH UI |
M0024621
|
| subClassOf | |
| Semantic type UMLS property | |
| MeSH name |
Piebaldism
|
| NDFRT kind |
DISEASE_KIND
|
| type | |
| SNOMED CID |
6479008
|
| tui |
T019
|
| NUI |
N0000003370
|
| cui |
C0080024
|
| MESH DUI |
D016116
|
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