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\Carbamoyl-phosphate synthetase 1 deficiency (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Carbamoyl-phosphate synthetase 1 deficiency (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of amino acid metabolism\Carbamoyl-phosphate synthetase 1 deficiency (disorder)
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Inborn error of amino acid metabolism\Carbamoyl-phosphate synthetase 1 deficiency (disorder)
\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\Carbamoyl-phosphate synthetase 1 deficiency (disorder)

\Congenital disease (disorder)\Inborn error of metabolism\Inborn error of amino acid metabolism\Carbamoyl-phosphate synthetase 1 deficiency (disorder)

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

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

3657936013 A rare and severe disorder of urea cycle metabolism most commonly 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. The disease is due to mutations in the CPS1 gene (2p) that encodes carbamoyl-phosphate synthetase I (CPS1), an enzyme located in the mitochondrial matrix of hepatocytes and epithelial cells of intestinal mucosa that controls the first step of the urea cycle where ammonia is converted into carbamoyl-phosphate. Mutations in this gene lead to an interruption in the urea cycle and excess nitrogen is not converted to urea for excretion by the kidneys, leading to hyperammonemia. Inherited in an autosomal recessive manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3657937016 A rare and severe disorder of urea cycle metabolism most commonly 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. The disease is due to mutations in the CPS1 gene (2p) that encodes carbamoyl-phosphate synthetase I (CPS1), an enzyme located in the mitochondrial matrix of hepatocytes and epithelial cells of intestinal mucosa that controls the first step of the urea cycle where ammonia is converted into carbamoyl-phosphate. Mutations in this gene lead to an interruption in the urea cycle and excess nitrogen is not converted to urea for excretion by the kidneys, leading to hyperammonemia. Inherited in an autosomal recessive manner. en Definition 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) Belgian module (core metadata concept)

975061000172116 déficit en carbamoyl-phosphate synthétase 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

913121000172116 CPS (carbamoyl-phosphate synthetase)-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

1002421000172114 carbamoylfosfaatsynthetase 1-deficiëntie 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
Carbamoyl-phosphate synthetase 1 deficiency (disorder)	Is a	Inborn error of amino acid metabolism	true	Inferred relationship	Some
Carbamoyl-phosphate synthetase 1 deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Carbamoyl-phosphate synthetase 1 deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Carbamoyl-phosphate synthetase 1 deficiency (disorder)	Is a	Disorder of the urea cycle metabolism	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
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
3657936013	A rare and severe disorder of urea cycle metabolism most commonly 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. The disease is due to mutations in the CPS1 gene (2p) that encodes carbamoyl-phosphate synthetase I (CPS1), an enzyme located in the mitochondrial matrix of hepatocytes and epithelial cells of intestinal mucosa that controls the first step of the urea cycle where ammonia is converted into carbamoyl-phosphate. Mutations in this gene lead to an interruption in the urea cycle and excess nitrogen is not converted to urea for excretion by the kidneys, leading to hyperammonemia. Inherited in an autosomal recessive manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3657937016	A rare and severe disorder of urea cycle metabolism most commonly 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. The disease is due to mutations in the CPS1 gene (2p) that encodes carbamoyl-phosphate synthetase I (CPS1), an enzyme located in the mitochondrial matrix of hepatocytes and epithelial cells of intestinal mucosa that controls the first step of the urea cycle where ammonia is converted into carbamoyl-phosphate. Mutations in this gene lead to an interruption in the urea cycle and excess nitrogen is not converted to urea for excretion by the kidneys, leading to hyperammonemia. Inherited in an autosomal recessive manner.	en	Definition	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)	Belgian module (core metadata concept)
975061000172116	déficit en carbamoyl-phosphate synthétase 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
913121000172116	CPS (carbamoyl-phosphate synthetase)-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
1002421000172114	carbamoylfosfaatsynthetase 1-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)