OMOP Concept 4042934
Fabry's disease
StandardConditionSNOMED16652001Disorder
Maps from
11
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
11 source codes normalize to Fabry's disease via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 118390 | Sweeley-Klionsky disease | Non-standard |
| HPO | HP_0001071 | Angiokeratoma corporis diffusum | Non-standard |
| ICD10CM | E75.21 | Fabry (-Anderson) disease | Non-standard |
| MeSH | D000795 | Fabry Disease | Non-standard |
| Nebraska Lexicon | 16652001 | Angiokeratoma corporis diffusum universale | Non-standard |
| Read | C327.11 | Anderson's disease | Non-standard |
| Read | C327.12 | Fabry's disease | Non-standard |
| Read | C327400 | Alpha-galactosidase A deficiency | Non-standard |
| Read | C327411 | Fabry's disease | Non-standard |
| Read | C327412 | Anderson's disease | Non-standard |
| Read | C327413 | Anderson-Fabry disease | Non-standard |
Synonyms
Alternative names recorded for Fabry's disease across source vocabularies.
- alpha-Galactosidase-A deficiency
- Alpha-galactosidase A deficiency
- Anderson-Fabry disease
- Angiokeratoma corporis diffusum
- Angiokeratoma corporis diffusum universale
- angioqueratoma corporis difuso universal
- Cardiovasorenal syndrome
- Ceramide lactoside lipidosis
- Ceramide trihexosidase deficiency
- deficiencia de alfa - galactosidasa A
- deficiencia de ceramida trihexosidasa
- deficiencia de GLA
- enfermedad de Anderson Fabry
- enfermedad de Anderson - Fabry
- enfermedad de Fabry
- enfermedad de Fabry (trastorno)
- enfermedad de Sweeley - Klionsky
- Fabry disease
- Fabry's disease (disorder)
- GLA deficiency
- Hereditary dystopic lipidosis
- lactosil ceramidosis
- Lactosyl ceramidosis
- lipoidosis distópica hereditaria
- Ruiter-Pompen syndrome
- síndrome cardiovasorrenal
- síndrome de Ruiter - Pompen
- Sweeley-Klionsky disease
- tesaurismosis hereditaria
- tesaurismosis lipoidica
- Thesaurismosis hereditaria
- Thesaurismosis lipoidica
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(82)Roll up to these when you need a wider cohort.
- 1Angiokeratoma of skin
- 1Cardiovascular system hereditary disorder
- 1Cerebrovascular disease
- 1Hereditary disorder of the integument
- 1Hereditary nephropathy
- 1Inherited metabolic disorder of nervous system
- 1Lipid storage disease
- 1Metabolic renal disease
- 1Sphingolipidosis
- 1X-linked hereditary disease
- 2Disorder of cardiovascular system
- 2Disorder of integument
- 2Disorder of lipid storage and metabolism
- 2Disorder of lysosomal enzyme
- 2Hemangioma of skin
- 2Hereditary disorder by system
- 2Hereditary disorder of nervous system
- 2Hereditary disorder of the urinary system
- 2Inborn error of metabolism
- 2Kidney disease
- 2Lysosomal storage disease
- 2Metabolic disease
- 2Sex-linked hereditary disorder
- 3Benign neoplasm of skin
- 3Cardiovascular finding
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