Mondo Disease Ontology

Last uploaded: May 9, 2024
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

http://purl.obolibrary.org/obo/GO_0005984

disease has location

http://purl.obolibrary.org/obo/UBERON_0001007

exactMatch

http://purl.obolibrary.org/obo/NCIT_C34731

http://purl.obolibrary.org/obo/DOID_9868

http://identifiers.org/snomedct/22169002

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

http://purl.obolibrary.org/obo/mondo#otar

label

intestinal disaccharidase deficiency

notation

MONDO:0004905

prefLabel

intestinal disaccharidase deficiency

treeView

http://purl.obolibrary.org/obo/MONDO_0000001

http://purl.obolibrary.org/obo/MONDO_0020598

http://purl.obolibrary.org/obo/MONDO_0037792

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019214

subClassOf

http://purl.obolibrary.org/obo/MONDO_0000001

http://purl.obolibrary.org/obo/MONDO_0020598

http://purl.obolibrary.org/obo/MONDO_0037792

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