fabry's disease

Preferred Label : fabry's disease;

Details

Origin ID

D6-74600;

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 [PASCAL descriptor]
- Fabry disease [DO Concept]
- Fabry disease [Disease (Nov.)]
- Fabry disease [LOINC component]
- 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]
Has phenotype(s) (HPO)
- Abnormality of cardiac conduction [HPO term]
- Left ventricular wall hypertrophy [HPO term]
- Mild obstructive lung disease [HPO term]
ICD-10 exact mapping(s)
- Other sphingolipidosis [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Developmental anomaly of metabolic origin [ORDO Disease]
- Genetic skin vascular disorder [ORDO Disease]
- Lysosomal disease with hypertrophic cardiomyopathy [ORDO Disease]
- Lysosomal disease with restrictive cardiomyopathy [ORDO Disease]
- Metabolic disease with cataract [ORDO Disease]
- Metabolic disease with corneal opacity [ORDO Disease]
- Nephropathy secondary to a storage or other metabolic disease [ORDO Disease]
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
- Skin vascular disease [ORDO Disease]
- Syndromic lymphedema [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- alpha-galactosidase [SNOMED Notion]
- congenital deficiency, nos [SNOMED Notion]
SNOMED CT concept
- Fabry's disease (disorder) [SNOMED CT concept]
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 [OMIM Phenotype]
- Fabry disease [LOINC component]
- Fabry disease [ORDO Disease]
- Fabry disease [Disease (Nov.)]
- Fabry disease [DO Concept]
- Fabry disease [PASCAL descriptor]
- Fabry disease [ICD-11 Sub-sub category]
- Fabry's disease [MedDRA Preferred Term]
- Fabry's disease (disorder) [SNOMED CT concept]
- fabry disease [MeSH concept]
- fabry disease [MeSH Descriptor]
Validated automatic mappings to BTNT
- Angiokeratoma Corporis Diffusum [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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