SNOMED Clinical Terms - GM1 gangliosidosis - Terms

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Preferred Name	GM1 gangliosidosis
Synonyms	beta-Galactosidase deficiency Beta-galactosidase deficiency GM1 gangliosidosis (disorder)
ID	238025006
Full Id	http://purl.bioontology.org/ontology/SNOMEDCT/238025006
CONCEPTSTATUS	0
CTV3ID	X40V7
has_associated_morphology	Congenital dysplasia
has_clinical_course	Courses
has_finding_site	Bone structure Structure of nervous system
has_severity	Severities
inverse_may_be_a	Mucopolysaccharidosis, MPS-IV-B
isa	Gangliosidosis Dysostosis multiplex group
ISPRIMITIVE	1
occurs_in	Congenital
Semantic_Type	Disease or Syndrome
SNOMEDID	D6-76001
SYNONYM FN	GM1 gangliosidosis (disorder)
SYNONYM SY	beta-Galactosidase deficiency Beta-galactosidase deficiency
TUI	T047
UMLS_CUI	C2718068 C0085131

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Mapping To	Ontology	Source	Comment	Relationship	Added By	Added On	Notes
http://purl.bioontology.org/ontology/ICD10CM/E75.19	ICD10CM	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/NDFRT/N0000003432	National Drug File	NLM UMLS (CUI)	CUI: C0085131	skos:closeMatch	loom	04/02/13	View Notes
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#GM1_Gangliosidosis	NCI Thesaurus	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/OMIM/MTHU012898	Online Mendelian Inheritance in Man	NLM UMLS (CUI)	CUI: C0085131	skos:closeMatch	loom	04/02/13	View Notes
http://www.orphanet.org/rdfns#pat_id_643	Experimental Factor Ontology	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MSH/D016537	Medical Subject Headings (MeSH)	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/CSP/1849-8633	CRISP Thesaurus, 2006	NLM UMLS (CUI)	CUI: C0085131	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/RCD/X40V7	Read Codes, Clinical Terms Version 3 (CTV3)	NLM UMLS (CUI)	CUI: C0085131	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/OMIM/230500	Online Mendelian Inheritance in Man	NLM UMLS (CUI)	CUI: C0085131	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/NDFRT/N0000003432	National Drug File	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/MSH/D016537	Medical Subject Headings (MeSH)	NLM UMLS (CUI)	CUI: C0085131	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/RCD/X40W7	Read Codes, Clinical Terms Version 3 (CTV3)	NLM UMLS (CUI)	CUI: C2718068	skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/RCD/X40V7	Read Codes, Clinical Terms Version 3 (CTV3)	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes
http://purl.bioontology.org/ontology/ICD10CM/E75.19	ICD10CM	NLM UMLS (CUI)	CUI: C0085131	skos:closeMatch	loom	04/02/13	View Notes
http://www.orphanet.org/rdfns#pat_id_643	Orphanet Ontology of Rare Diseases	NCBO (lexical mapping)		skos:closeMatch	loom	04/02/13	View Notes

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