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80908008: Ornithine carbamoyltransferase deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
134206013 Ornithine carbamoyltransferase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
134207016 Ornithine transcarbamylase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
134208014 OCTD en Synonym Active Entire term case sensitive SNOMED CT core module
134209018 OCT deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
504541017 OTC - Ornithine transcarbamylase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
504542012 OCT - Ornithine carbamoyltransferase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
504543019 Deficiency of citrulline phosphorylase en Synonym Active Entire term case insensitive SNOMED CT core module
504544013 Ornithine transcarbamoylase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
504545014 Deficiency of ornithine carbamoyltransferase en Synonym Active Entire term case insensitive SNOMED CT core module
504546010 Deficiency of ornithine transcarbamylase en Synonym Active Entire term case insensitive SNOMED CT core module
822120013 Ornithine carbamoyltransferase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ornithine carbamoyltransferase deficiency Is a Hyperammonemia true Inferred relationship Existential restriction modifier
Ornithine carbamoyltransferase deficiency Is a Sex-linked hereditary disorder true Inferred relationship Existential restriction modifier
Ornithine carbamoyltransferase deficiency Is a Enzymopathy true Inferred relationship Existential restriction modifier
Ornithine carbamoyltransferase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Ornithine carbamoyltransferase deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier
Ornithine carbamoyltransferase deficiency Is a Inborn error of metabolism true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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