1264112006: Late-onset citrullinemia type I (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Citrullinemia (disorder)\Citrullinemia type I (disorder)\Late-onset citrullinemia type I
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Citrullinemia (disorder)\Citrullinemia type I (disorder)\Late-onset citrullinemia type I
• \Metabolic disease\Hereditary metabolic disease\Citrullinemia (disorder)\Citrullinemia type I (disorder)\Late-onset citrullinemia type I
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Citrullinemia (disorder)\Citrullinemia type I (disorder)\Late-onset citrullinemia type I
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the urea cycle metabolism\Citrullinemia (disorder)\Citrullinemia type I (disorder)\Late-onset citrullinemia type I
• \Metabolic disease\Enzymopathy\Citrullinemia (disorder)\Citrullinemia type I (disorder)\Late-onset citrullinemia type I
• \Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Citrullinemia (disorder)\Citrullinemia type I (disorder)\Late-onset citrullinemia type I

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5171318016	Late-onset citrullinemia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5171319012	Late-onset citrullinaemia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5171320018	Late-onset citrullinemia type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5171321019	Late-onset citrullinemia type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5171322014	Late-onset citrullinaemia type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5171323016	A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5171324010	A form of citrullinaemia type I characterised clinically by adult onset of symptoms including variable hyperammonaemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

Back to Start