SNOMED Clinical Terms - Stickler syndrome - Terms | NCBO BioPortal

SNOMED Clinical Terms Summary

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Preferred Name	Stickler syndrome
Synonyms	Hereditary arthro-ophthalmopathy Hereditary progressive arthro-ophthalmopathy Stickler dysplasia Wagner-Stickler syndrome Stickler syndrome (disorder)
ID	78675000
Full Id	http://purl.bioontology.org/ontology/SNOMEDCT/78675000
CONCEPTSTATUS	0
CTV3ID	PKy7B
has_associated_morphology	Congenital dysplasia Degeneration Congenital malformation
has_clinical_course	Courses
has_finding_site	Limb structure Vitreous body structure Retinal structure Bone structure Joint structure
has_severity	Severities
isa	Multiple malformation syndrome with facial-limb defects as major feature Hereditary vitreoretinopathy Kniest-Stickler dysplasia group Osteoarthritis
ISPRIMITIVE	1
occurs_in	Congenital
Semantic_Type	Congenital Abnormality
SNOMEDID	D4-00812
SYNONYM FN	Stickler syndrome (disorder)
SYNONYM SY	Hereditary arthro-ophthalmopathy Hereditary progressive arthro-ophthalmopathy Stickler dysplasia Wagner-Stickler syndrome
TUI	T019
UMLS_CUI	C0265253

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Mapping To	Ontology	Source	Comment	Relationship	Added By	Added On	Notes
http://purl.obolibrary.org/obo/DOID_0080046	Human disease ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.obolibrary.org/obo/DOID_0080046	NIF Dysfunction	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/RCD/PKy7B	Read Codes, Clinical Terms Version 3 (CTV3)	NLM UMLS (CUI)	CUI: C0265253	skos:closeMatch	loom	04/02/13	View Notes
http://www.orphanet.org/rdfns#pat_id_824	Experimental Factor Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.obolibrary.org/obo/DOID_0080046	Neuroscience Information Framework Standard ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MSH/C537492	Medical Subject Headings (MeSH)	NLM UMLS (CUI)	CUI: C0265253	skos:closeMatch	loom	04/02/13	View Notes
http://www.orphanet.org/rdfns#pat_id_824	Orphanet Ontology of Rare Diseases	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/RCD/PKy7B	Read Codes, Clinical Terms Version 3 (CTV3)	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Stickler_Syndrome	NCI Thesaurus	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/OMIM/108300	Online Mendelian Inheritance in Man	NLM UMLS (CUI)	CUI: C0265253	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MDR/10063402	MedDRA	NLM UMLS (CUI)	CUI: C0265253	skos:closeMatch	loom	04/02/13	View Notes

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