733448000: Deficiency of guanylate cyclase 2C (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of lyase\Deficiency of guanylate cyclase 2C (disorder)

Status: current, Not 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

3499442010 Deficiency of guanylate cyclase 2C (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3499443017 Deficiency of guanylate cyclase 2C en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3499444011 Guanylate cyclase 2C deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5916271000241112 déficit en guanylate cyclase 2C fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of guanylate cyclase 2C (disorder)	Is a	Deficiency of lyase	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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.	Due to	True	Deficiency of guanylate cyclase 2C (disorder)	Inferred relationship	Some	1

This concept is not in any reference sets