National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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Preferred Name

Craniofacial Dysostosis
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84653
code

C84653
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 syndrome inherited in an autosomal dominant pattern. It is characterized by early fusion of the bones of the skull and face. Patients have a distinctive facial appearance which includes low-set ears, brachycephaly, hypertelorism, exophthalmos, and mandibular prognathism.
FULL_SYN

Crouzon Syndrome
Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C107377
label

Craniofacial Dysostosis
NICHD_Hierarchy_Term

Craniofacial Dysostosis
Preferred_Name

Craniofacial Dysostosis
prefixIRI

C84653
prefLabel

Craniofacial Dysostosis
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0010273
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34560

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/Q75.1 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://purl.obolibrary.org/obo/HP_0004439 Human Phenotype Ontology LOOM
http://purl.bioontology.org/ontology/ICD10/Q75.1 International Classification of Diseases, Version 10 LOOM
http://purl.bioontology.org/ontology/MESH/D003394 Medical Subject Headings LOOM