Read Codes, Clinical Terms Version 3 (CTV3)

Last uploaded: January 31, 2024

Preferred Name	B1 variant hexosaminidase A deficiency
Synonyms
ID	http://purl.bioontology.org/ontology/RCD/X40V5
cui	C1848916
notation	X40V5
prefLabel	B1 variant hexosaminidase A deficiency
RID	Y41qs
tui	T047
subClassOf	http://purl.bioontology.org/ontology/RCD/X40V1

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/238024005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/272800	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/606869	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/238024005	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/C564785	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238024005	SNOMEDCT	LOOM