National Cancer Institute Thesaurus

Last uploaded: February 23, 2024

Preferred Name	Acrocephalosyndactyly
Synonyms	Acrocephalosyndactyly
Definitions	A genetic disorder characterized by craniosynostosis and fusion of the fingers and toes.
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34348
code	C34348
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259
Contributing_Source	NICHD
DEFINITION	A genetic disorder characterized by craniosynostosis and fusion of the fingers and toes.
FULL_SYN	Acrocephalosyndactyly
label	Acrocephalosyndactyly
Legacy Concept Name	Acrocephalosyndactyly
Preferred_Name	Acrocephalosyndactyly
prefixIRI	Thesaurus:C34348
Semantic_Type	Disease or Syndrome Congenital Abnormality
UMLS_CUI	C3806012
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97151 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0019796	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019796	MONDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C34348	BERO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10000590	MEDDRA	LOOM
http://purl.bioontology.org/ontology/ICD9CM/755.55	ICD9CM	LOOM
http://www.gamuts.net/entity#acrocephalosyndactyly	GAMUTS	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/268262006	SNOMEDCT	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1265	HRDO	LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Acrocephalosyndactyly	PEDTERM	LOOM
http://purl.obolibrary.org/obo/MONDO_0019796	DOVES	LOOM
http://purl.bioontology.org/ontology/RCTV2/PF55.00	RCTV2	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Acrocephalosyndactyly	CSEO	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU067413	OMIM	LOOM