loading...| Preferred Name |
Galactosemias [Disease/Finding] |
|
| Synonyms |
Galactosemias |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001303 |
|
| altLabel |
Galactosemias Galactosemia |
|
| cui |
C0016952 |
|
| Has contraindicated drug |
http://purl.bioontology.org/ontology/NDFRT/N0000146930 |
|
| MESH DEFINITION |
A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3) |
|
| MESH DUI |
D005693 |
|
| MeSH name |
Galactosemias |
|
| MESH UI |
M0008941 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001303 |
|
| NUI |
N0000001303 |
|
| prefLabel |
Galactosemias [Disease/Finding] |
|
| SNOMED CID |
190745006 |
|
| tui |
T047 |
|
| subClassOf |