Fabry disease - CISMeF

ICD-11 code : 5C56.01;

Preferred Label : Fabry disease;

ICD-11 definition : Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.;

ICD-11 synonym : Anderson-Fabry disease; Ceramide trihexosidase deficiency; Alpha-galactosidase A deficiency;

Details

Origin ID

66996647;

UMLS CUI

C0002986;

Currated CISMeF NLP mapping
- Alpha galactosidase A deficiency [MedDRA LLT]
- Angiokeratoma corporis diffusum universale [MedDRA LLT]
- Fabry Disease [NCIt concept]
- Fabry disease [ORDO Disease]
- Fabry disease [DO Concept]
- Fabry disease [PASCAL descriptor]
- Fabry disease [LOINC component]
- Fabry disease [OMIM Phenotype]
- Fabry disease [Disease (Nov.)]
- Fabry's disease [MedDRA Preferred Term]
- Fabry's disease (disorder) [SNOMED CT concept]
- fabry disease [MeSH concept]
- fabry disease [MeSH Descriptor]
- fabry's disease [SNOMED Notion]
ICD-10 Mapping
- Sphingolipidosis, unspecified [ICD-10 Sub-category]
See also inter- (CISMeF)
- Sphingolipidosis, unspecified [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha galactosidase A deficiency [MedDRA LLT]
- Angiokeratoma Corporis Diffusum [NCIt concept]
- Angiokeratoma corporis diffusum [HPO term]
- Angiokeratoma corporis diffusum universale [MedDRA LLT]
- Deficiency of alpha-galactosidase (disorder) [SNOMED CT concept]
- Fabry Disease [NCIt concept]
- Fabry disease [DO Concept]
- Fabry disease [LOINC component]
- Fabry disease [OMIM Phenotype]
- Fabry disease [Disease (Nov.)]
- Fabry disease [ORDO Disease]
- Fabry disease [PASCAL descriptor]
- Fabry's disease [MedDRA Preferred Term]
- Fabry's disease (disorder) [SNOMED CT concept]
- fabry disease [MeSH Descriptor]
- fabry disease [MeSH concept]
- fabry's disease [SNOMED Notion]
Validated automatic mappings to NTBT
- Deficiency of alpha-galactosidase (disorder) [SNOMED CT concept]
- Sphingolipidosis (disorder) [SNOMED CT concept]

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