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
103913013 Carbomyl-phosphate synthethase deficiency en Synonym Inactive 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