Medical Subject Headings

Last uploaded: January 31, 2024

Preferred Name	Hereditary bundle branch system defect
Synonyms	Lenegre Lev disease
ID	http://purl.bioontology.org/ontology/MESH/C566873
altLabel	Lenegre Lev disease Cardiac conduction defect, progressive Heart block progressive, familial PfhbIa Pfhb1a Pfhbi Heart block, progressive familial, type 1 Progressive Familial Heart Block, Type Ia Heart Block, Progressive Familial, Type I Lenegre-Lev Disease
cui	C1879286
HM	D006327 D000075224
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D000075224 http://purl.bioontology.org/ontology/MESH/D006327
MDA	20121105
MeSH Frequency	378
MMR	20170922
notation	C566873
prefLabel	Hereditary bundle branch system defect
SC	3
Scope Statement	A form of heart block caused by dominant mutations in the SCN5A gene and characterized by RIGHT BUNDLE-BRANCH BLOCK. OMIM: 113900
TERMUI	T737422 T737420 T809311 T737418 T809310 T737424 T809315 T831198 T809312 T809309 T737417
TH	OMIM (2013) ORD (2010)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/283645003	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNMI/D3-32100	SNMI	CUI
http://purl.bioontology.org/ontology/SCTSPA/698249005	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/698249005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/113900	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/600163	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/283645003	SNOMEDCT	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C566873	RH-MESH	LOOM