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30529005: citrullinemie bij pasgeborene (aandoening)

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

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

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

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

Descriptions:

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
215371000146114	citrullinemie van neonaat	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
215381000146111	citrullinemie bij pasgeborene (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
219141000146116	citrullinemie bij pasgeborene	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)