Read Codes, Clinical Terms Version 3 (CTV3)

Last uploaded: January 31, 2024
Preferred Name

Alpha-galactosidase A deficiency

Synonyms

Anderson-Fabry disease

ID

http://purl.bioontology.org/ontology/RCD/X40VJ

altLabel

Anderson-Fabry disease

Ceramide trihexosidase deficiency

Fabry disease

Angiokeratoma corporis diffusum

cui

C0002986

notation

X40VJ

prefLabel

Alpha-galactosidase A deficiency

RID

Y41rZ

Y31kn

Y41ra

Ya1nk

Y41rb

tui

T047

subClassOf

http://purl.bioontology.org/ontology/RCD/X30LZ

http://purl.bioontology.org/ontology/RCD/X40VC

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http://purl.bioontology.org/ontology/MDRGER/10071118 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10016016 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10002458 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/MTHU001048 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10002458 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/16652001 SCTSPA CUI
http://purl.bioontology.org/ontology/LNC/LA14036-0 LOINC CUI
http://purl.bioontology.org/ontology/MEDDRA/10002458 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/301500 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10016016 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/D6-74600 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10071118 MDRFRE CUI
http://purl.bioontology.org/ontology/LNC/MTHU036941 LOINC CUI
http://purl.bioontology.org/ontology/MESH/D000795 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/16652001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10071118 MEDDRA CUI
http://purl.bioontology.org/ontology/LNC/LP113911-4 LOINC CUI
http://purl.bioontology.org/ontology/OMIM/300644 OMIM CUI
http://purl.bioontology.org/ontology/CSP/1849-9034 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10016016 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.21 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124464003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000411 NDFRT CUI
http://purl.bioontology.org/ontology/MSHFRE/D000795 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/124464003 SCTSPA CUI
http://purl.bioontology.org/ontology/RCTV2/C327400 RCTV2 LOOM
http://purl.bioontology.org/ontology/MEDDRA/10071118 MEDDRA LOOM