Fabry Disease - CISMeF

Preferred Label : Fabry Disease;

NCIt synonyms : Alpha-Galactosidase A Deficiency;

NCIt related terms : Fabry's Disease;

NCIt definition : A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.;

Alternative definition : NICHD: An X-linked lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A, which results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.;

NCI Metathesaurus CUI : CL412926;

Détails

Origin ID

C84701;

UMLS CUI

C0002986;

Currated CISMeF NLP mapping
- Alpha galactosidase A deficiency [MedDRA LLT]
- Angiokeratoma corporis diffusum [HPO term]
- Angiokeratoma corporis diffusum universale [MedDRA LLT]
- Deficiency of alpha-galactosidase (disorder) [SNOMED CT concept]
- Fabry disease [LOINC component]
- Fabry disease [PASCAL descriptor]
- Fabry disease [DO Concept]
- Fabry disease [Disease (Nov.)]
- Fabry disease [ICD-11 Sub-sub category]
- Fabry disease [OMIM Phenotype]
- Fabry disease [ORDO Disease]
- 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]
DO Cross reference
- Fabry disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha galactosidase A deficiency [MedDRA LLT]
- Angiokeratoma corporis diffusum [HPO term]
- Angiokeratoma corporis diffusum universale [MedDRA LLT]
- Deficiency of alpha-galactosidase (disorder) [SNOMED CT concept]
- Fabry disease [ORDO Disease]
- Fabry disease [OMIM Phenotype]
- Fabry disease [LOINC component]
- Fabry disease [PASCAL descriptor]
- Fabry disease [DO Concept]
- Fabry disease [Disease (Nov.)]
- Fabry disease [ICD-11 Sub-sub category]
- 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 BTNT
- Angiokeratoma corporis diffusum [ICD-11 More detail]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GLA Gene [NCIt concept]

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