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

Status: current, Defined. 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 Active Initial character case insensitive SNOMED CT core
3499440019 Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency en Synonym Active Initial character case insensitive SNOMED CT core
3499441015 Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency (disorder) en Fully specified name Active Initial character case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Finding site Structure of ileal lumen true Inferred relationship Some 2
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Causative agent Meconium stool true Inferred relationship Some 2
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Is a Gastrointestinal complication true Inferred relationship Some
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Occurrence Early neonatal period true Inferred relationship Some 2
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Due to Deficiency of guanylate cyclase 2C true Inferred relationship Some 1
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Is a Meconium ileus true Inferred relationship Some
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Is a Digestive system hereditary disorder true Inferred relationship Some
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Associated morphology Obstruction true Inferred relationship Some 2
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Occurrence Perinatal period false Inferred relationship Some 2
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Finding site Intestinal structure false Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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