398680004: Citrullinemia (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Citrullinemia (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Citrullinemia (disorder)

\Metabolic disease\Hereditary metabolic disease\Citrullinemia (disorder)
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Citrullinemia (disorder)
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the urea cycle metabolism\Citrullinemia (disorder)
\Metabolic disease\Enzymopathy\Citrullinemia (disorder)
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Citrullinemia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1766599016 Citrullinemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1773235018 Citrullinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1774521013 Citrullinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

85051000077110 citrullinémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3438691001000117 Zitrullinämie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Citrullinemia (disorder)	Is a	Enzymopathy	true	Inferred relationship	Some
Citrullinemia (disorder)	Is a	Aminoacidemia	true	Inferred relationship	Some
Citrullinemia (disorder)	Is a	Disorder of the urea cycle metabolism	true	Inferred relationship	Some
Citrullinemia (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Citrullinemia (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Citrullinemia (disorder)	Is a	Hereditary disease	false	Inferred relationship	Some
Citrullinemia (disorder)	Is a	Hereditary metabolic disease	true	Inferred relationship	Some
Citrullinemia (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Zitrullinämie, adulte, Typ 1	Is a	False	Citrullinemia (disorder)	Inferred relationship	Some
Citrullinemia, neonatal type	Is a	True	Citrullinemia (disorder)	Inferred relationship	Some
Citrullinemia, subacute type	Is a	True	Citrullinemia (disorder)	Inferred relationship	Some
Citrin deficiency (disorder)	Is a	True	Citrullinemia (disorder)	Inferred relationship	Some
Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form and by variable hyperammonemia in the later-onset form.	Is a	True	Citrullinemia (disorder)	Inferred relationship	Some

This concept is not in any reference sets