Link to this page
National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
Jump to:
| Preferred Name | Adrenoleukodystrophy | |
| Synonyms |
Adrenoleukodystrophy Schilder Disease |
|
| Definitions |
A rare metabolic disorder characterized by damage of the myelin sheaths in the nervous system and degeneration of the adrenal glands. It leads to progressive neurologic disorders, adrenal insufficiency and death. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61252 |
|
| ALT_DEFINITION |
An X-linked recessive condition caused by mutation(s) in the ABCD1 gene, resulting in defective peroxisomal fatty acid oxidation and accumulation of saturated very long chain fatty acids in all tissues of the body. Clinical manifestations of the condition vary in severity, and can include progressive loss of adrenal gland function, Leydig cell dysfunction, and neurodegenerative changes.
|
|
| code |
C61252
|
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
| Contributing_Source |
Cellosaurus CTRP NICHD
|
|
| DEFINITION |
A rare metabolic disorder characterized by damage of the myelin sheaths in the nervous system and degeneration of the adrenal glands. It leads to progressive neurologic disorders, adrenal insufficiency and death.
|
|
| Display_Name |
Adrenoleukodystrophy
|
|
| FULL_SYN |
Adrenoleukodystrophy Schilder Disease
|
|
| label |
Adrenoleukodystrophy
|
|
| Legacy Concept Name |
Adrenoleukodystrophy
|
|
| Preferred_Name |
Adrenoleukodystrophy
|
|
| prefixIRI |
Thesaurus:C61252
|
|
| Semantic_Type |
Disease or Syndrome
|
|
| UMLS_CUI |
C0162309
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping