National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Osteochondrodysplasia

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84978

ALT_DEFINITION

A complex group of bone and cartilage disorders that result in abnormalities in the size and shape of the trunk, extremities, and/or skull.

code

C84978

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118464

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118468

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

MedDRA

DEFINITION

A term referring to disorders characterized by abnormalities in the development of bones and cartilage.

FULL_SYN

Skeletal Dysplasia

Congenital Skeletal Dysplasia

Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C89337

label

Osteochondrodysplasia

NICHD_Hierarchy_Term

Osteochondrodysplasia

Preferred_Name

Osteochondrodysplasia

prefixIRI

C84978

prefLabel

Osteochondrodysplasia

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0029422

subClassOf

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/OMIM/MTHU041797 Online Mendelian Inheritance in Man LOOM
http://purl.obolibrary.org/obo/DOID_2256 Human Disease Ontology 123 LOOM