28183005: Fructose-biphosphatase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Fructose-biphosphatase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fructose-biphosphatase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Fructose-biphosphatase deficiency
\Metabolic disease\Enzymopathy\Fructose-biphosphatase deficiency
\Metabolic disease\Disorder of carbohydrate metabolism\Fructose metabolism disorder (disorder)\Fructose-biphosphatase deficiency

\Congenital disease (disorder)\Inborn error of metabolism\Fructose-biphosphatase deficiency

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

Descriptions:

Id Description Lang Type Status Case? Module

47181017 Fructose-biphosphatase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

47182012 Fructose-1,6-diphosphatase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

47183019 Hereditary fructose-1,6-phosphatase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

758834017 Fructose-biphosphatase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1225814015 Fructose-1,6-bisphosphatase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

903831000052115 brist på fruktosdifosfatas sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fructose-biphosphatase deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Fructose-biphosphatase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Fructose-biphosphatase deficiency	Is a	Fructose metabolism disorder (disorder)	true	Inferred relationship	Some
Fructose-biphosphatase deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Fructose-biphosphatase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Fructose-biphosphatase deficiency	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets