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

\Finding of small intestine\Disorder of small intestine\...

\Disorder of ileum\Meconium ileus\Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency

\Small bowel obstruction\Meconium ileus\Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency

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

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

4012291000052112 tarmobstruktion hos nyfödd orsakad av brist på guanylatcyklas 2C sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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	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 (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 (qualifier value)	false	Inferred relationship	Some	2
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency	Finding site	Intestinal structure	false	Inferred relationship	Some	2
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

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

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
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
4012291000052112	tarmobstruktion hos nyfödd orsakad av brist på guanylatcyklas 2C	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)