FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

785727000: Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3768173010 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3768174016 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3768175015 Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3768176019 A rare genetic intestinal disease with characteristics of early-onset chronic diarrhoea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and oesophagitis (with or without oesophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease are frequently associated. There is evidence the disease is caused by heterozygous mutation in the GUCY2C gene on chromosome 12p12. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3768177011 A rare genetic intestinal disease with characteristics of early-onset chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease are frequently associated. There is evidence the disease is caused by heterozygous mutation in the GUCY2C gene on chromosome 12p12. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3768173010 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3768174016 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3768175015 Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3768176019 A rare genetic intestinal disease with characteristics of early-onset chronic diarrhoea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and oesophagitis (with or without oesophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease are frequently associated. There is evidence the disease is caused by heterozygous mutation in the GUCY2C gene on chromosome 12p12. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3768177011 A rare genetic intestinal disease with characteristics of early-onset chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease are frequently associated. There is evidence the disease is caused by heterozygous mutation in the GUCY2C gene on chromosome 12p12. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425281001000113 Diarrhoe, chronische, infantile, durch Guanylatcyclase 2C-Überaktivität de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5750861000241118 diarrhée infantile chronique due à une hyperactivité de la guanylate cyclase 2C fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5750861000241118 diarrhée infantile chronique due à une hyperactivité de la guanylate cyclase 2C fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3425281001000113 Diarrhoe, chronische, infantile, durch Guanylatcyclase 2C-Überaktivität 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
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) Interprets Bowel action true Inferred relationship Existential restriction modifier (core metadata concept) 1
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) Is a Chronic diarrhea of infants AND/OR young children (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) Has interpretation Altered (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) Clinical course Chronic (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) Finding site Intestinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) Interprets Digestive system function false Inferred relationship Existential restriction modifier (core metadata concept) 4
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) Is a Diarrheal disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start