765329008: Carbamoyl-phosphate synthetase 1 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Inborn error of amino acid metabolism\A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.
• \Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Inborn error of amino acid metabolism\A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of amino acid metabolism\A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.
• \Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Inborn error of amino acid metabolism\A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.
• \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\A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5404531017	A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404532012	A rare, severe disorder of urea cycle metabolism typically characterised by either a neonatal onset of severe hyperammonaemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3657932010	Carbamoyl-phosphate synthetase I deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3657933017	Carbamoyl-phosphate synthetase 1 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3657934011	Carbamoyl-phosphate synthetase 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3780968014	CPS1 (carbamoyl-phosphate synthetase 1) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5286195017	CPS1-gene related carbamoyl-phosphate synthetase 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
889481000172115	CPS1D - carbamoyl-phosphate synthetase 1 deficiency	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
975061000172116	déficit en carbamoyl-phosphate synthétase 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3431291001000111	Carbamoyl-Phosphat-Synthetase 1-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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