National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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Preferred Name

Congenital Methemoglobinemia
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98898
code

C98898
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

Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.
Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2869

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C104003
label

Congenital Methemoglobinemia
NICHD_Hierarchy_Term

Congenital Methemoglobinemia
Preferred_Name

Congenital Methemoglobinemia
prefixIRI

C98898
prefLabel

Congenital Methemoglobinemia
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0272087
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34817

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C104003
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/D74.0 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://purl.bioontology.org/ontology/MESH/C580280 Medical Subject Headings LOOM