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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 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

5923341000052114 sent debuterande citrullinemi typ 1 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Late-onset citrullinemia type I	Is a	Citrullinemia type I (disorder)	true	Inferred relationship	Some
Late-onset citrullinemia type I	Due to	Deficiency of argininosuccinate synthase	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
5923341000052114	sent debuterande citrullinemi typ 1	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)