Read Codes, Clinical Terms Version 3 (CTV3)

Last uploaded: January 31, 2024

Preferred Name	Glucocerebrosidase deficiency type II
Synonyms	Acute neuronopathic Gaucher disease
ID	http://purl.bioontology.org/ontology/RCD/X40VD
altLabel	Acute neuronopathic Gaucher disease Infantile Gaucher disease Cerebral acute Gaucher disease
cui	C0268250
notation	X40VD
prefLabel	Glucocerebrosidase deficiency type II
RID	Y41rD Y41rE Y41rC Y41rF
tui	T047
subClassOf	http://purl.bioontology.org/ontology/RCD/C3271

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/12246008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D005776	MSHFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10075698	MDRGER	CUI
http://purl.bioontology.org/ontology/SCTSPA/12246008	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNMI/D6-74120	SNMI	CUI
http://purl.bioontology.org/ontology/MESH/D005776	MESH	CUI
http://purl.bioontology.org/ontology/MDRFRE/10075698	MDRFRE	CUI
http://purl.bioontology.org/ontology/OMIM/230900	OMIM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10075698	MEDDRA	CUI
http://purl.bioontology.org/ontology/OMIM/606463	OMIM	CUI