fabry disease - CISMeF

Preferred Label : fabry disease;

MeSH definition : An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.;

MeSH synonym : alpha galactosidase A deficiency; alpha-Galactosidase A deficiency; deficiency, alpha-Galactosidase A; angiokeratoma corporis diffusum; anderson-fabry disease; alpha-galactosidase a deficiency disease; anderson fabry disease; fabry's disease; alpha galactosidase a deficiency disease; hereditary dystopic lipidosis; lipidosis, hereditary dystopic; angiokeratoma, diffuse; diffuse angiokeratoma; ceramide trihexosidase deficiency; deficiency, ceramide trihexosidase; angiokeratoma diffuse; GLA deficiency; deficiency, GLA;

CISMeF synonym : Fabry; alpha-Galactosidase A deficiencies; angiokeratomas, diffuse; ceramide trihexosidase deficiencies; deficiencies, alpha-Galactosidase A; deficiencies, ceramide trihexosidase; diffuse angiokeratomas; disease, fabry; dystopic lipidoses, hereditary; dystopic lipidosis, hereditary; fabrys disease; hereditary dystopic lipidoses; lipidoses, hereditary dystopic; trihexosidase deficiencies, ceramide; trihexosidase deficiency, ceramide;

MeSH annotation : do not confuse entry term ANDERSON-FABRY DISEASE with ANDERSEN'S DISEASE;

Wikipedia link : https://en.wikipedia.org/wiki/Fabry disease;

Details

Origin ID

D000795;

UMLS CUI

C0002986;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
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 [NCIt concept]
- 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 [LOINC component]
- Fabry disease [ORDO Disease]
- Fabry's disease [MedDRA Preferred Term]
- Fabry's disease (disorder) [SNOMED CT concept]
- fabry's disease [SNOMED Notion]
DO Cross reference
- Fabry disease [DO Concept]
HPO term
- Angiokeratoma corporis diffusum [HPO term]
Has phenotype(s) (HPO)
- Abnormality of cardiac conduction [HPO term]
- Left ventricular wall hypertrophy [HPO term]
- Mild obstructive lung disease [HPO term]
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]
MeSH Descriptor(s) used for indexing
- alpha-Galactosidase [MeSH Descriptor]
ORDO relation(s)
- Fabry disease [ORDO Disease]
Record concept(s)
- fabry disease [MeSH concept]
Related MeSH Supplementary Concept(s)
- angiokeratoma corporis diffusum with arteriovenous fistulas [MeSH Supplementary Concept]
- fabry disease, cardiac variant [MeSH Supplementary Concept]
See also
- alpha-Galactosidase [MeSH Descriptor]
- ceramides [MeSH Descriptor]
See also inter- (CISMeF)
- Angiokeratoma corporis diffusum [HPO term]
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 [DO Concept]
- Fabry disease [PASCAL descriptor]
- 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's disease [SNOMED Notion]
Validated automatic mappings to BTNT
- Angiokeratoma Corporis Diffusum [NCIt concept]
- Angiokeratoma corporis diffusum [ICD-11 More detail]

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