SNOMED Clinical Terms - Acrocephalosyndactyly type I - Terms

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Preferred Name	Acrocephalosyndactyly type I
Synonyms	Apert syndrome Acrocephalosyndactyly type I (disorder) Acrocephalosyndactyly (Apert) Acrocephalosyndactyly (Apert) (disorder)
ID	205258009
Full Id	http://purl.bioontology.org/ontology/SNOMEDCT/205258009
CONCEPTSTATUS	0
CTV3ID	PF550
has_associated_morphology	Congenital anomaly Congenital abnormal fusion Congenital premature fusion
has_clinical_course	Courses
has_finding_site	Joint structure of suture of skull Bone structure of cranium Digit structure
has_severity	Severities
isa	Syndactyly Craniosynostosis syndrome Connective tissue hereditary disorder Autosomal dominant hereditary disorder Acrocephalosyndactyly Hereditary disorder of musculoskeletal system
ISPRIMITIVE	1
occurs_in	Congenital
refers_to	Acrocephalosyndactyly
same_as	Apert's syndrome
Semantic_Type	Congenital Abnormality
SNOMEDID	DF-002DF
SYNONYM FN	Acrocephalosyndactyly type I (disorder)
SYNONYM OF	Acrocephalosyndactyly (Apert) (disorder)
SYNONYM SY	Apert syndrome Acrocephalosyndactyly (Apert)
TUI	T019
UMLS_CUI	C0001193

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Mapping To	Ontology	Source	Comment	Relationship	Added By	Added On	Notes
http://www.orphanet.org/rdfns#pat_id_261	Experimental Factor Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/RCD/PF550	Read Codes, Clinical Terms Version 3 (CTV3)	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/RCD/XE1Lu	Read Codes, Clinical Terms Version 3 (CTV3)	NLM UMLS (CUI)	CUI: C0001193	skos:closeMatch	loom	04/02/13	View Notes
http://purl.org/skeletome/bonedysplasia#Apert_syndrome	Bone Dysplasia Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MDR/10002943	MedDRA	NLM UMLS (CUI)	CUI: C0001193	skos:closeMatch	loom	04/02/13	View Notes
http://www.orphanet.org/rdfns#pat_id_261	Orphanet Ontology of Rare Diseases	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/ICD10CM/Q87.0	ICD10CM	NLM UMLS (CUI)	CUI: C0001193	skos:closeMatch	loom	04/02/13	View Notes
http://bioontology.org/projects/ontologies/radlex/radlexOwlDlComponent#RID35015	RadLex	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://www.owl-ontologies.com/NPOntology.owl#Apert_syndrome	Natural Products Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MSH/D000168	Medical Subject Headings (MeSH)	NLM UMLS (CUI)	CUI: C0001193	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/OMIM/101200	Online Mendelian Inheritance in Man	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/OMIM/101200	Online Mendelian Inheritance in Man	NLM UMLS (CUI)	CUI: C0001193	skos:closeMatch	loom	04/02/13	View Notes
http://www.co-ode.org/ontologies/galen#ApertSyndrome	Galen	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes

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