410053003: Clinical manifestation of enzyme deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Clinical manifestation of enzyme deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2465504016 Clinical manifestation of enzyme deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2471779019 Clinical manifestation of enzyme deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2465504016 Clinical manifestation of enzyme deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2465504016 Clinical manifestation of enzyme deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2471779019 Clinical manifestation of enzyme deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2471779019 Clinical manifestation of enzyme deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

157671000077119 manifestation clinique d'un déficit enzymatique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

157671000077119 manifestation clinique d'un déficit enzymatique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Clinical manifestation of enzyme deficiency (disorder)	Is a	Metabolic disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Clinical manifestation of enzyme deficiency (disorder)	Due to	Enzymopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Gyrate atrophy	Is a	True	Clinical manifestation of enzyme deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Clinical manifestation of carnosinase deficiency	Is a	True	Clinical manifestation of enzyme deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperimidodipeptiduria due to proline dipeptidase deficiency (disorder)	Is a	True	Clinical manifestation of enzyme deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Tyrosinaemia type I	Is a	True	Clinical manifestation of enzyme deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Histidinemia (disorder)	Is a	True	Clinical manifestation of enzyme deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hydroxymethylglutaric aciduria (disorder)	Is a	True	Clinical manifestation of enzyme deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets