SNOMED Clinical Terms - Oto-palato-digital syndrome, type I - Terms | NCBO BioPortal

SNOMED Clinical Terms Summary

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Preferred Name	Oto-palato-digital syndrome, type I
Synonyms	Taybi syndrome Oto-palato-digital syndrome, type I (disorder)
ID	54036001
Full Id	http://purl.bioontology.org/ontology/SNOMEDCT/54036001
CONCEPTSTATUS	0
CTV3ID	XUG6r
has_associated_morphology	Congenital dysplasia Congenital malformation
has_clinical_course	Courses
has_finding_site	Limb structure Bone structure
has_severity	Severities
isa	Oto-palato-digital syndrome, type II
ISPRIMITIVE	1
occurs_in	Congenital
Semantic_Type	Congenital Abnormality Disease or Syndrome
SNOMEDID	D4-00809
SYNONYM FN	Oto-palato-digital syndrome, type I (disorder)
SYNONYM SY	Taybi syndrome
TUI	T019 T047
UMLS_CUI	C0265251

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Mapping To	Ontology	Source	Comment	Relationship	Added By	Added On	Notes
http://purl.bioontology.org/ontology/OMIM/311300	Online Mendelian Inheritance in Man	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/MSH/C536065	Medical Subject Headings (MeSH)	NLM UMLS (CUI)	CUI: C0265251	skos:closeMatch	loom	05/21/13	View Notes

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