1237339005: Severe primary trimethylaminuria (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Severe primary trimethylaminuria
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe primary trimethylaminuria
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Severe primary trimethylaminuria
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Trimethylaminuria\Severe primary trimethylaminuria
• \Congenital disease\Inborn error of metabolism\Severe primary trimethylaminuria

Status: current, Primitive. Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5097781017	Severe primary trimethylaminuria (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5097782012	Severe primary trimethylaminuria	en	Synonym	Active	Case insensitive	SNOMED CT core
5097783019	A rare inborn error of metabolism characterised by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odour in affected individuals. While there are no additional signs and symptoms, the condition can have profound psychosocial consequences.	en	Definition	Active	Case sensitive	SNOMED CT core
5097784013	A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. While there are no additional signs and symptoms, the condition can have profound psychosocial consequences.	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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