National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Chondrodysplasia Punctata
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84632
code	C84632
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 congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.
FULL_SYN	Chondrodysplasia Punctata (Stippled Epiphyses) Group
Has_NICHD_Parent	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84978
label	Chondrodysplasia Punctata
NICHD_Hierarchy_Term	Chondrodysplasia Punctata
Preferred_Name	Chondrodysplasia Punctata
prefixIRI	C84632
prefLabel	Chondrodysplasia Punctata
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0008445
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

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Mapping To	Ontology	Source
http://purl.bmicc.cn/ontology/ICD11CN/LD24.04	International Classification of Diseases, 11th Edition, China	LOOM
http://purl.bioontology.org/ontology/MESH/D002806	Medical Subject Headings	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU050816	Online Mendelian Inheritance in Man	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.3	International Classification of Diseases, Version 10 - Clinical Modification	LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.3	International Classification of Diseases, Version 10	LOOM
http://purl.obolibrary.org/obo/DOID_2581	Human Disease Ontology 123	LOOM