30529005: Citrullinemia, neonatal type (disorder)

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

\Finding of neonate\Neonatal disorder\Neonatal metabolic disorder (disorder)\Neonatal metabolic acidemia (disorder)\Citrullinaemia, neonatal type

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Citrullinemia (disorder)\Citrullinaemia, neonatal type
\Disease\Disorder of foetus and/or newborn\Neonatal disorder\Neonatal metabolic disorder (disorder)\Neonatal metabolic acidemia (disorder)\Citrullinaemia, neonatal type
\Disease\Metabolic disease\Hereditary metabolic disease\Citrullinemia (disorder)\Citrullinaemia, neonatal type
\Disease\Metabolic disease\Neonatal metabolic disorder (disorder)\Neonatal metabolic acidemia (disorder)\Citrullinaemia, neonatal type
\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Citrullinemia (disorder)\Citrullinaemia, neonatal type
\Disease\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)\Citrullinaemia, neonatal type
\Disease\Metabolic disease\Enzymopathy\Citrullinemia (disorder)\Citrullinaemia, neonatal type
\Disease\Metabolic disease\Disorder of acid-base balance\Acidemia\Neonatal metabolic acidemia (disorder)\Citrullinaemia, neonatal type
\Disease\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Citrullinemia (disorder)\Citrullinaemia, neonatal type

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2010. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

51090012 Citrullinemia, neonatal type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

484624015 Citrullinaemia, neonatal type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

761543010 Citrullinemia, neonatal type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

10741861000172110 citrullinémie de type néonatal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5194421000172113 citrullinemie bij pasgeborene nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5194431000172111 citrullinemie van neonaat nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Citrullinaemia, neonatal type	Is a	Citrullinemia	false	Inferred relationship	Some
Citrullinaemia, neonatal type	Finding site	Body system structure	false	Inferred relationship	Some
Citrullinaemia, neonatal type	Occurrence	Congenital	false	Inferred relationship	Some
Citrullinaemia, neonatal type	Is a	Citrullinemia (disorder)	true	Inferred relationship	Some
Citrullinaemia, neonatal type	Is a	Neonatal disorder	false	Inferred relationship	Some
Citrullinaemia, neonatal type	Occurrence	Neonatal	true	Inferred relationship	Some	1
Citrullinaemia, neonatal type	Is a	Neonatal metabolic acidemia (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Belgian subset for neonatology in patient health records