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716277000: Chronic diarrhea due to glucoamylase deficiency (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3303306013 Chronic diarrhea due to glucoamylase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305365013 Chronic diarrhea due to glucoamylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305366014 Chronic diarrhoea due to glucoamylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305367017 Maltase glucoamylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401289014 A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401290017 A rare intestinal disease characterised by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhoea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303306013 Chronic diarrhea due to glucoamylase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303306013 Chronic diarrhea due to glucoamylase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305365013 Chronic diarrhea due to glucoamylase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3305365013 Chronic diarrhea due to glucoamylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305366014 Chronic diarrhoea due to glucoamylase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3305366014 Chronic diarrhoea due to glucoamylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305367017 Maltase glucoamylase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3305367017 Maltase glucoamylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305368010 This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency. The prevalence is unknown. Patients with chronic diarrhoea and glucoamylase deficiency may also display other disaccharidase deficiencies (sucrase, and lactase) and signs of small intestinal mucosal injury (secondary glucoamylase deficiency). No causative mutations in the maltase-glucoamylase gene have been identified so far. Patients generally respond to a starch-free diet. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305369019 This syndrome is characterized by chronic diarrhea in infancy or childhood in association with intestinal glucoamylase deficiency. The prevalence is unknown. Patients with chronic diarrhea and glucoamylase deficiency may also display other disaccharidase deficiencies (sucrase, and lactase) and signs of small intestinal mucosal injury (secondary glucoamylase deficiency). No causative mutations in the maltase-glucoamylase gene have been identified so far. Patients generally respond to a starch-free diet. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401289014 A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401290017 A rare intestinal disease characterised by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhoea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447151001000115 Diarrhoe, chronische, durch Glucoamylase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
936131000172118 déficit en maltase-glucoamylase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1018831000172113 diarrhée chronique associée à un déficit en glucoamylase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
936131000172118 déficit en maltase-glucoamylase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1018831000172113 diarrhée chronique associée à un déficit en glucoamylase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447151001000115 Diarrhoe, chronische, durch Glucoamylase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chronic diarrhea due to glucoamylase deficiency (disorder) Due to Deficiency of glucan 1,4-alpha-glucosidase true Inferred relationship Existential restriction modifier (core metadata concept) 5
Chronic diarrhea due to glucoamylase deficiency (disorder) Is a Chronic diarrhea of infants AND/OR young children (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Chronic diarrhea due to glucoamylase deficiency (disorder) Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Chronic diarrhea due to glucoamylase deficiency (disorder) Clinical course Chronic (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Chronic diarrhea due to glucoamylase deficiency (disorder) Has definitional manifestation Diarrhea false Inferred relationship Existential restriction modifier (core metadata concept)
Chronic diarrhea due to glucoamylase deficiency (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Chronic diarrhea due to glucoamylase deficiency (disorder) Finding site Gastrointestinal tract structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Chronic diarrhea due to glucoamylase deficiency (disorder) Has interpretation Altered (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Chronic diarrhea due to glucoamylase deficiency (disorder) Interprets Bowel action false Inferred relationship Existential restriction modifier (core metadata concept) 2
Chronic diarrhea due to glucoamylase deficiency (disorder) Finding site Intestinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Chronic diarrhea due to glucoamylase deficiency (disorder) Interprets Digestive system function false Inferred relationship Existential restriction modifier (core metadata concept) 6
Chronic diarrhea due to glucoamylase deficiency (disorder) Is a Gastrointestinal complication true Inferred relationship Existential restriction modifier (core metadata concept)
Chronic diarrhea due to glucoamylase deficiency (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Chronic diarrhea due to glucoamylase deficiency (disorder) Is a Disorder of digestive system specific to fetus OR newborn true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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