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 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_14499 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/LNC/LA14036-0 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/OMIM/301500 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://www.orpha.net/ORDO/Orphanet_324 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/LNC/LP113911-4 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/MESH/D000795 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/MONDO_0010526 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0010526 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/LNC/MTHU036941 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84701 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM