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733447005: Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3499439016 Meconium ileus due to guanylate cyclase 2C deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3499440019 Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3499441015 Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5403778011 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, autosomal recessive, gastroenterological disorder reported in three families so far that is characterized by meconium ileus without any further stigmata of cystic fibrosis including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the GUCY2C gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403779015 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, autosomal recessive, gastroenterological disorder reported in three families so far that is characterised by meconium ileus without any further stigmata of cystic fibrosis including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhoea in infancy. Homozygous mutations in the GUCY2C gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499439016 Meconium ileus due to guanylate cyclase 2C deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3499440019 Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3499441015 Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3499995017 An extremely rare autosomal recessive gastroenterological disorder reported in three families so far characterised by meconium ileus without any further stigmata of cystic fibrosis including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhoea in infancy. Homozygous mutations in the GUCY2C gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499996016 An extremely rare autosomal recessive gastroenterological disorder reported in three families so far characterized by meconium ileus without any further stigmata of cystic fibrosis including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the GUCY2C gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403778011 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, autosomal recessive, gastroenterological disorder reported in three families so far that is characterized by meconium ileus without any further stigmata of cystic fibrosis including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the GUCY2C gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403779015 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, autosomal recessive, gastroenterological disorder reported in three families so far that is characterised by meconium ileus without any further stigmata of cystic fibrosis including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhoea in infancy. Homozygous mutations in the GUCY2C gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3434491001000112 Intestinale Obstruktion des Neugeborenen durch Guanylatcyclasen 2C-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
914511000172119 iléus méconial par déficit en guanylate cyclase 2C fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
956091000172119 occlusion intestinale du nouveau-né par déficit en guanylate cyclase 2C fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
914511000172119 iléus méconial par déficit en guanylate cyclase 2C fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
956091000172119 occlusion intestinale du nouveau-né par déficit en guanylate cyclase 2C fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3434491001000112 Intestinale Obstruktion des Neugeborenen durch Guanylatcyclasen 2C-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
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Due to Deficiency of guanylate cyclase 2C (disorder) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Is a Meconium ileus (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Associated morphology Obstruction true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Occurrence période périnatale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Finding site Intestinal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Finding site Structure of ileal lumen true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Causative agent (attribute) Meconium stool true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Is a Gastrointestinal complication true Inferred relationship Existential restriction modifier (core metadata concept)
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Occurrence Early neonatal period true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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