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Logical Observation Identifier Names and Codes
| Preferred Name | Fabry disease | |
| Synonyms |
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| Definitions |
Fabry disease is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance. |
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| ID |
http://purl.bioontology.org/ontology/LNC/LA14036-0 |
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| Answer to |
http://purl.bioontology.org/ontology/LNC/104189-6 http://purl.bioontology.org/ontology/LNC/57719-7 http://purl.bioontology.org/ontology/LNC/62302-5 http://purl.bioontology.org/ontology/LNC/57720-5 |
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| cui |
C0002986
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| definition |
Fabry disease is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance.
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| notation |
LA14036-0
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| prefLabel |
Fabry disease
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| tui |
T047
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