National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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Preferred Name

Holoprosencephaly
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74988
code

C74988
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 disorder characterized by the failure of the forebrain to divide into distinct hemispheres. It is associated with craniofacial abnormalities, developmental abnormalities, and seizures.
FULL_SYN

Holoprosencephaly Sequence
Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97172
label

Holoprosencephaly
Legacy_Concept_Name

Holoprosencephaly
NICHD_Hierarchy_Term

Holoprosencephaly
Preferred_Name

Holoprosencephaly
prefixIRI

C74988
prefLabel

Holoprosencephaly
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0079541
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10/Q04.2 International Classification of Diseases, Version 10 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q04.2 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://purl.bmicc.cn/ontology/ICD11CN/LA05.2 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/MESH/D016142 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_4621 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU000059 Online Mendelian Inheritance in Man LOOM