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Preferred Name

法布里病 / Fabry disease
Definitions

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.
ID

http://purl.bmicc.cn/ontology/ICD11CN/5C56.01
Coded_Elsewhere

Glomerular disease associated with Fabry disease (GB4Z)
definition

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.
hasDbXref

http://id.who.int/icd/release/11/2019-04/mms/66996647
label

法布里病 / Fabry disease
mappingRelation

http://purl.bmicc.cn/ontology/ICD10CN/E75.3
notation

5C56.01
prefixIRI

ICD11CN:C56.01
prefLabel

法布里病 / Fabry disease
subClassOf

http://purl.bmicc.cn/ontology/ICD11CN/5C56.0
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http://purl.obolibrary.org/obo/DOID_14499 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/LNC/LA14036-0 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/OMIM/301500 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/LNC/LP113911-4 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/MESH/D000795 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/LNC/MTHU036941 Logical Observation Identifier Names and Codes LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84701 National Cancer Institute Thesaurus LOOM