National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Neonatal Adrenoleukodystrophy

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99251

code

C99251

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147

Contributing_Source

NICHD

DEFINITION

A rare metabolic disorder that affects neonates. It is characterized by damage of the white matter in the brain and degeneration of the adrenal glands. It manifests with hyperactivity, paralysis, muscular weakness, crossed eyes, hearing loss, seizures, and coma.

Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98996

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34816

label

Neonatal Adrenoleukodystrophy

NICHD_Hierarchy_Term

Neonatal Adrenoleukodystrophy

Preferred_Name

Neonatal Adrenoleukodystrophy

prefixIRI

C99251

prefLabel

Neonatal Adrenoleukodystrophy

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0282525

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98996

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61252

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http://purl.bioontology.org/ontology/ICD10CM/E71.511 International Classification of Diseases, Version 10 - Clinical Modification LOOM