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1222709003: Syndromic congenital sodium diarrhea (disorder)


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
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
7758841000241115 entéropathie congénitale syndromique en touffes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7758851000241117 diarrhée sodée congénitale syndromique fr Synonym (core metadata concept) Active Entire term case insensitive (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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
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. Is a Congenital secretory diarrhea true Inferred relationship Some
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. Interprets Bowel action true Inferred relationship Some 2
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. Has interpretation Altered true Inferred relationship Some 2
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. Occurrence Congenital true Inferred relationship Some 1
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. Finding site Structure of large intestine (body structure) true Inferred relationship Some 1
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. Is a Digestive system hereditary disorder true Inferred relationship Some
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. Is a Autosomal recessive hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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