Preferred Name |
intestinal disaccharidase deficiency |
|
Synonyms |
intestinal disaccharidase deficiency and disaccharide malabsorption intestinal disaccharide deficiency and disaccharide malabsorption |
|
Definitions |
Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0004905 |
|
database_cross_reference |
EFO:1000060 NCIT:C34731 SCTID:22169002 ICD9:271.3 DOID:9868 |
|
definition |
Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age. |
|
disease caused by disruption of | ||
disease has location | ||
exactMatch |
http://purl.obolibrary.org/obo/NCIT_C34731 |
|
has_alternative_id |
MONDO:0006062 |
|
has_exact_synonym |
intestinal disaccharidase deficiency and disaccharide malabsorption |
|
has_related_synonym |
intestinal disaccharide deficiency and disaccharide malabsorption |
|
id |
MONDO:0004905 |
|
in_subset | ||
label |
intestinal disaccharidase deficiency |
|
notation |
MONDO:0004905 |
|
prefLabel |
intestinal disaccharidase deficiency |
|
treeView |
http://purl.obolibrary.org/obo/MONDO_0000001 |
|
excluded subClassOf | ||
subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000001 |