SNOMED Clinical Terms - Robinow syndrome - Terms | NCBO BioPortal

SNOMED Clinical Terms Summary

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Preferred Name	Robinow syndrome
Synonyms	Fetal face syndrome Robinow syndrome (disorder)
ID	76520005
Full Id	http://purl.bioontology.org/ontology/SNOMEDCT/76520005
CONCEPTSTATUS	0
CTV3ID	PKy67
has_associated_morphology	Congenital dysplasia
has_clinical_course	Courses
has_finding_site	Musculoskeletal structure of limb Face structure Bone structure
has_severity	Severities
isa	Autosomal hereditary disorder Connective tissue hereditary disorder Disorder of face Disorder of extremity Multiple malformation syndrome, moderate short stature, facial Hereditary disorder of musculoskeletal system Mesomelic dysplasia
ISPRIMITIVE	1
occurs_in	Congenital
Semantic_Type	Disease or Syndrome
SNOMEDID	D4-00304
SYNONYM FN	Robinow syndrome (disorder)
SYNONYM SY	Fetal face syndrome
TUI	T047
UMLS_CUI	C0265205

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Mapping To	Ontology	Source	Comment	Relationship	Added By	Added On	Notes
http://purl.bioontology.org/ontology/OMIM/180700	Online Mendelian Inheritance in Man	NLM UMLS (CUI)	CUI: C0265205	skos:closeMatch	loom	05/21/13	View Notes
http://www.orphanet.org/rdfns#pat_id_12911	Experimental Factor Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/RCD/PKy67	Read Codes, Clinical Terms Version 3 (CTV3)	NLM UMLS (CUI)	CUI: C0265205	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/RCD/PKy67	Read Codes, Clinical Terms Version 3 (CTV3)	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85048	NCI Thesaurus	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://www.orphanet.org/rdfns#pat_id_12911	Orphanet Ontology of Rare Diseases	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/ICD10CM/Q87.1	ICD10CM	NLM UMLS (CUI)	CUI: C0265205	skos:closeMatch	loom	05/21/13	View Notes

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