410053003: klinische manifestatie van enzymdeficiëntie (aandoening)

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

7055391000146110 klinische manifestatie van deficiëntie van enzym nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7055401000146113 klinische manifestatie van enzymdeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8635551000146110 klinische manifestatie van enzymdeficiëntie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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	Some
Clinical manifestation of enzyme deficiency (disorder)	Due to	Enzymopathy	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Gyrate atrophy	Is a	True	Clinical manifestation of enzyme deficiency (disorder)	Inferred relationship	Some
Clinical manifestation of carnosinase deficiency (disorder)	Is a	True	Clinical manifestation of enzyme deficiency (disorder)	Inferred relationship	Some
Hyperimidodipeptiduria due to proline dipeptidase deficiency (disorder)	Is a	True	Clinical manifestation of enzyme deficiency (disorder)	Inferred relationship	Some
Tyrosinemia type I (disorder)	Is a	True	Clinical manifestation of enzyme deficiency (disorder)	Inferred relationship	Some
Histidinemia (disorder)	Is a	True	Clinical manifestation of enzyme deficiency (disorder)	Inferred relationship	Some
Hydroxymethylglutaric aciduria (disorder)	Is a	True	Clinical manifestation of enzyme deficiency (disorder)	Inferred relationship	Some

This concept is not in any reference sets