loading...| Preferred Name |
葡萄糖-半乳糖吸收不良 / Glucose-galactose malabsorption |
| Definitions |
Glucose-galactose malabsorption is characterised by diarrhoea and severe neonatal dehydration. Around 300 cases have been described to date. Moderate glucosuria has also been reported, but fructose absorption is normal. Glucose-galactose malabsorption is caused by a mutation in the SLC5A1 gene, encoding the glucose-sodium cotransporter, SGTL1. The mode of transmission is autosomal recessive. The fatal consequences of this syndrome can be avoided by following a glucose and galactose restricted diet. |
| ID |
http://purl.bmicc.cn/ontology/ICD11CN/5C61.0 |
| definition |
Glucose-galactose malabsorption is characterised by diarrhoea and severe neonatal dehydration. Around 300 cases have been described to date. Moderate glucosuria has also been reported, but fructose absorption is normal. Glucose-galactose malabsorption is caused by a mutation in the SLC5A1 gene, encoding the glucose-sodium cotransporter, SGTL1. The mode of transmission is autosomal recessive. The fatal consequences of this syndrome can be avoided by following a glucose and galactose restricted diet. |
| exclusions |
Glucose or galactose intolerance of newborn (5C51.42) |
| hasDbXref | |
| label |
葡萄糖-半乳糖吸收不良 / Glucose-galactose malabsorption |
| mappingRelation | |
| notation |
5C61.0 |
| prefixIRI |
ICD11CN:C61.0 |
| prefLabel |
葡萄糖-半乳糖吸收不良 / Glucose-galactose malabsorption |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/606824 | Online Mendelian Inheritance in Man | LOOM | |
| http://purl.bioontology.org/ontology/MESH/C562602 | Medical Subject Headings | LOOM |