398680004: Citrullinemia (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Citrullinemia

\Metabolic disease\Hereditary metabolic disease\Citrullinemia
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Citrullinemia
\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
\Metabolic disease\Enzymopathy\Citrullinemia
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Citrullinemia

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

Descriptions:

Id Description Lang Type Status Case? Module

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

1773235018 Citrullinaemia en Synonym Active Entire term case insensitive SNOMED CT core module

1774521013 Citrullinemia en Synonym Active Entire term case insensitive SNOMED CT core module

1786524014 Argininosuccinate synthase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

1786525010 ASS deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

1786526011 ASA synthase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

1786527019 Argininosuccinase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

1786528012 ASAS deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

1786529016 Arginosuccinate synthetase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Citrullinemia	Is a	Enzymopathy	true	Inferred relationship	Existential restriction modifier
Citrullinemia	Is a	Aminoacidemia	true	Inferred relationship	Existential restriction modifier
Citrullinemia	Is a	Disorder of the urea cycle metabolism	true	Inferred relationship	Existential restriction modifier
Citrullinemia	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
Citrullinemia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Citrullinemia	Is a	Hereditary disease	false	Inferred relationship	Existential restriction modifier
Citrullinemia	Is a	Hereditary metabolic disease	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Citrullinemia, late-onset type	Is a	True	Citrullinemia	Inferred relationship	Existential restriction modifier
Citrullinemia, neonatal type	Is a	True	Citrullinemia	Inferred relationship	Existential restriction modifier
Citrullinemia, subacute type	Is a	True	Citrullinemia	Inferred relationship	Existential restriction modifier
Citrin deficiency	Is a	True	Citrullinemia	Inferred relationship	Existential restriction modifier
Citrullinemia type I	Is a	True	Citrullinemia	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets