SNOMED Clinical Terms - Congenital lactase deficiency - Terms | NCBO BioPortal

SNOMED Clinical Terms Summary

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Preferred Name	Congenital lactase deficiency
Synonyms	Congenital alactasia syndrome Congenital lactose intolerance Congenital lactose malabsorption Disaccharide intolerance II Congenital alactasia CLD - Congenital lactase deficiency Congenital lactase deficiency (disorder)
ID	5388008
Full Id	http://purl.bioontology.org/ontology/SNOMEDCT/5388008
CONCEPTSTATUS	0
CTV3ID	X40Ti
has_clinical_course	Courses
has_finding_site	Intestinal structure
has_severity	Severities
isa	Syndrome of carbohydrate intolerance Lactose intolerance Congenital disease Lactase deficiency Malabsorption syndrome Enzymopathy Autosomal recessive hereditary disorder Digestive system hereditary disorder
ISPRIMITIVE	1
occurs_in	Congenital
Semantic_Type	Disease or Syndrome
SNOMEDID	D6-54210
SYNONYM FN	Congenital lactase deficiency (disorder)
SYNONYM SY	Congenital alactasia syndrome Congenital lactose intolerance Congenital lactose malabsorption Disaccharide intolerance II Congenital alactasia CLD - Congenital lactase deficiency
TUI	T047
UMLS_CUI	C0268179

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Mapping To	Ontology	Source	Comment	Relationship	Added By	Added On	Notes
http://purl.bioontology.org/ontology/ICD10CM/E73.0	International Classification of Diseases, Version 10 - Clinical Modfication	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/RCD/X40Ti	Read Codes, Clinical Terms Version 3 (CTV3)	NLM UMLS (CUI)	CUI: C0268179	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/ICD10/E73.0	International Classification of Diseases, Version 10	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/ICD10CM/E73.0	International Classification of Diseases, Version 10 - Clinical Modfication	NLM UMLS (CUI)	CUI: C0268179	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/ICD10/E73.0	International Classification of Diseases, Version 10	NLM UMLS (CUI)	CUI: C0268179	skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/RCD/X40Ti	Read Codes, Clinical Terms Version 3 (CTV3)	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://purl.bioontology.org/ontology/OMIM/223000	Online Mendelian Inheritance in Man	NLM UMLS (CUI)	CUI: C0268179	skos:closeMatch	loom	05/21/13	View Notes
http://www.orphanet.org/rdfns#pat_id_10735	Orphanet Ontology of Rare Diseases	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes
http://www.orphanet.org/rdfns#pat_id_10735	Experimental Factor Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	05/21/13	View Notes

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