1222709003: Syndromic congenital sodium diarrhea (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Abdominal organ finding\Bowel finding\...
• \Finding of large intestine\Disorder of large intestine\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Intestinal disease\Diarrhoeal disorder\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Intestinal disease\Disorder of large intestine\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Digestive system finding\Gastrointestinal tract finding\Bowel finding\Finding of large intestine\Disorder of large intestine\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Digestive system finding\Gastrointestinal tract finding\Bowel finding\Intestinal disease\Diarrhoeal disorder\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Digestive system finding\Gastrointestinal tract finding\Bowel finding\Intestinal disease\Disorder of large intestine\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Diarrhoeal disorder\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Digestive system finding\Finding of defaecation\Finding of bowel action\Altered bowel function\Diarrhoea\Diarrhoeal disorder\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Syndromic congenital sodium diarrhoea
• \Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Diarrhoeal disorder\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Diarrhoeal disorder\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Disorder of large intestine\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Diarrhoeal disorder\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Bowel finding\Finding of large intestine\Disorder of large intestine\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Bowel finding\Intestinal disease\Diarrhoeal disorder\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Bowel finding\Intestinal disease\Disorder of large intestine\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Diarrhoeal disorder\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Diarrhoeal disorder\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Syndromic congenital sodium diarrhoea
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Syndromic congenital sodium diarrhoea
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Syndromic congenital sodium diarrhoea
• \Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Syndromic congenital sodium diarrhoea
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Diarrhoeal disorder\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Diarrhoeal disorder\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Disorder of large intestine\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Diarrhoeal disorder\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Secretory diarrhoea\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea
• \Disease\Congenital disease\Congenital secretory diarrhoea\Syndromic congenital sodium diarrhoea

Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5048616013	Syndromic congenital sodium diarrhoea	en	Synonym	Active	Case insensitive	SNOMED CT core
5048617016	Syndromic congenital sodium diarrhea	en	Synonym	Active	Case insensitive	SNOMED CT core
5048618014	Syndromic congenital sodium diarrhea (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5048619018	Syndromic congenital tufting enteropathy	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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