Code System Concept

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Code System Concept

Code System Concept Code	733447005
Code System Concept Name	Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency (disorder)
Code System Preferred Concept Name	Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	07/31/2017
SDO Date Created	07/31/2017
SDO Date Revised	07/31/2017
Description	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.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3499439016	Meconium ileus due to guanylate cyclase 2C deficiency	Active	Synonym	false	false
3499440019	Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Digestive system hereditary disorder (disorder) {363080007 , SNOMED-CT } Gastrointestinal complication (disorder) {24813008 , SNOMED-CT } Meconium ileus (disorder) {206523001 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,