Link to this page
National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
Jump to:
| Preferred Name | Hermansky-Pudlak Syndrome | |
| Synonyms |
Hermansky-Pudlak Syndrome |
|
| Definitions |
A group of autosomal recessive inherited disorders characterized by albinism, bleeding tendency, and lung disorders such as pulmonary fibrosis. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C37261 |
|
| ALT_DEFINITION |
A group of autosomal recessive, inherited disorders characterized by albinism, qualitative platelet defect, and lung disorders such as pulmonary fibrosis.
|
|
| code |
C37261
|
|
| Concept_In_Subset | ||
| Contributing_Source |
NICHD
|
|
| DEFINITION |
A group of autosomal recessive inherited disorders characterized by albinism, bleeding tendency, and lung disorders such as pulmonary fibrosis.
|
|
| FULL_SYN |
Hermansky-Pudlak Syndrome
|
|
| label |
Hermansky-Pudlak Syndrome
|
|
| Legacy Concept Name |
Hermansky-Pudlak_Syndrome
|
|
| Preferred_Name |
Hermansky-Pudlak Syndrome
|
|
| prefixIRI |
Thesaurus:C37261
|
|
| Semantic_Type |
Disease or Syndrome
|
|
| UMLS_CUI |
C0079504
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping