62522004: Congenital hyperammonemia, type I (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

103912015 Congenital hyperammonemia, type I en Synonym Active Only initial character case insensitive SNOMED CT core module

103914019 CPS deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

103915018 CPS I deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

199104019 Carbamoylphosphate synthetase I deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

199105018 Carbamoyl-phosphate synthethase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

499317014 Congenital hyperammonaemia, type I en Synonym Active Only initial character case insensitive SNOMED CT core module

801704018 Congenital hyperammonemia, type I (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

1232343019 Carbamoyl-phosphate synthase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

1232344013 CPS - Carbamoyl-phosphate synthase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hyperammonemia, type I	Is a	Enzymopathy	false	Inferred relationship	Existential restriction modifier
Congenital hyperammonemia, type I	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Existential restriction modifier
Congenital hyperammonemia, type I	Is a	Hyperammonemia	false	Inferred relationship	Existential restriction modifier
Congenital hyperammonemia, type I	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
Congenital hyperammonemia, type I	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Congenital hyperammonemia, type I	Is a	Inborn error of metabolism	false	Inferred relationship	Existential restriction modifier
Congenital hyperammonemia, type I	Is a	Mitochondrial cytopathy	false	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets