1222709003: Syndromic congenital sodium diarrhea (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Bowel finding\...
• \Finding of defaecation\Finding of bowel action (finding)\Altered bowel function\Diarrheal disorder\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Finding of large intestine (finding)\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Disease of intestine\Diarrheal disorder\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Disease of intestine\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Finding of defaecation\Finding of bowel action (finding)\Altered bowel function\Diarrheal disorder\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Finding of large intestine (finding)\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disease of intestine\Diarrheal disorder\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disease of intestine\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disease of intestine\Diarrheal disorder\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disease of intestine\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disease of lower gastrointestinal tract\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Digestive system finding (finding)\Diarrhea\Diarrheal disorder\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Syndromic congenital sodium diarrhea
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Disease of intestine\Diarrheal disorder\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Disease of intestine\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Disease of lower gastrointestinal tract\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of intestine\Diarrheal disorder\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of intestine\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disease of intestine\Diarrheal disorder\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disease of intestine\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of lower gastrointestinal tract\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Finding of defaecation\Finding of bowel action (finding)\Altered bowel function\Diarrheal disorder\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Finding of large intestine (finding)\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Disease of intestine\Diarrheal disorder\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Bowel finding\Disease of intestine\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disease of intestine\Diarrheal disorder\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disease of intestine\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disease of intestine\Diarrheal disorder\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disease of intestine\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of lower gastrointestinal tract\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Syndromic congenital sodium diarrhea
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Syndromic congenital sodium diarrhea
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Syndromic congenital sodium diarrhea
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Syndromic congenital sodium diarrhea
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Disease of intestine\Diarrheal disorder\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Disease of intestine\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Disease of lower gastrointestinal tract\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of intestine\Diarrheal disorder\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of intestine\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disease of intestine\Diarrheal disorder\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disease of intestine\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of lower gastrointestinal tract\Disorder of large intestine\Secretory diarrhea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhea

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5048616013	Syndromic congenital sodium diarrhoea	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048617016	Syndromic congenital sodium diarrhea	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048618014	Syndromic congenital sodium diarrhea (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048619018	Syndromic congenital tufting enteropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400028016	A rare, genetic, syndromic intestinal disorder, characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis, and generally, uni- or bilateral choanal atresia, and corneal erosions. Additional congenital malformations may include intestinal atresia, and hexadactyly.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400029012	A rare, genetic, syndromic intestinal disorder, characterised by congenital onset of severe watery diarrhoea containing high concentrations of sodium, hyponatraemia and metabolic acidosis, and generally, uni- or bilateral choanal atresia, and corneal erosions. Additional congenital malformations may include intestinal atresia, and hexadactyly.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048616013	Syndromic congenital sodium diarrhoea	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048617016	Syndromic congenital sodium diarrhea	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048618014	Syndromic congenital sodium diarrhea (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048619018	Syndromic congenital tufting enteropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048620012	A rare genetic syndromic intestinal disorder characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis, and generally, unilateral or bilateral choanal atresia and corneal erosions. Additional congenital malformations may include intestinal atresia and hexadactyly. The disorder is due to homozygous or compound-heterozygous mutations in serine peptidase inhibitor, Kunitz type 2 (SPINT2; encoded by SPINT2, 19q13.2), resulting in abrogated sodium absorption, enhanced fluid secretion and diarrhea. The pattern of inheritance is autosomal recessive (AR) for SPINT2 mutations. The risk of disease transmission to offspring for AR disease is 25% where both parents are unaffected carriers.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048621011	A rare genetic syndromic intestinal disorder characterised by congenital onset of severe watery diarrhoea containing high concentrations of sodium, hyponatraemia and metabolic acidosis, and generally, unilateral or bilateral choanal atresia and corneal erosions. Additional congenital malformations may include intestinal atresia and hexadactyly. The disorder is due to homozygous or compound-heterozygous mutations in serine peptidase inhibitor, Kunitz type 2 (SPINT2; encoded by SPINT2, 19q13.2), resulting in abrogated sodium absorption, enhanced fluid secretion and diarrhoea. The pattern of inheritance is autosomal recessive (AR) for SPINT2 mutations. The risk of disease transmission to offspring for AR disease is 25% where both parents are unaffected carriers.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400028016	A rare, genetic, syndromic intestinal disorder, characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis, and generally, uni- or bilateral choanal atresia, and corneal erosions. Additional congenital malformations may include intestinal atresia, and hexadactyly.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400029012	A rare, genetic, syndromic intestinal disorder, characterised by congenital onset of severe watery diarrhoea containing high concentrations of sodium, hyponatraemia and metabolic acidosis, and generally, uni- or bilateral choanal atresia, and corneal erosions. Additional congenital malformations may include intestinal atresia, and hexadactyly.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3447891001000116	Syndromale kongenitale Natriumdiarrhöe	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3447891001000116	Syndromale kongenitale Natriumdiarrhöe	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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