Read Codes, Clinical Terms Version 3 (CTV3)

Last uploaded: August 28, 2024

Preferred Name	Glucocerebrosidase deficiency type III
Synonyms	Norrbottnian Gaucher disease Juvenile Gaucher disease Subacute neuronopathic Gaucher disease
ID	http://purl.bioontology.org/ontology/RCD/X40VE
altLabel	Norrbottnian Gaucher disease Juvenile Gaucher disease Subacute neuronopathic Gaucher disease
cui	C0268251
notation	X40VE
prefLabel	Glucocerebrosidase deficiency type III
RID	Y41rJ Y41rI Y41rH Y41rG
tui	T047
subClassOf	http://purl.bioontology.org/ontology/RCD/C3271

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/5963005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D005776	MSHFRE	CUI
http://purl.bioontology.org/ontology/OMIM/231000	OMIM	CUI
http://purl.bioontology.org/ontology/MDRGER/10075699	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRFRE/10075699	MDRFRE	CUI
http://purl.bioontology.org/ontology/MESH/D005776	MESH	CUI
http://purl.bioontology.org/ontology/SNMI/D6-74130	SNMI	CUI
http://purl.bioontology.org/ontology/SCTSPA/5963005	SCTSPA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10075699	MEDDRA	CUI
http://purl.bioontology.org/ontology/OMIM/606463	OMIM	CUI