477380501000119109: drager van deficiëntie van dihydrolipoamidedehydrogenase (bevinding)

SNOMED CT Concept\Clinical finding (finding)\Carrier of disorder\Genetic disorder carrier\Carrier of dihydrolipoamide dehydrogenase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5223404016 Carrier of dihydrolipoamide dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5223405015 Carrier of dihydrolipoamide dehydrogenase deficiency (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5233530013 Carrier of maple syrup urine disease, type III en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

14436821000146111 drager van deficiëntie van dihydrolipoamidedehydrogenase (bevinding) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14436831000146113 drager van dihydrolipoamidedehydrogenasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14436841000146117 drager van pyruvaatdehydrogenase E3-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14436851000146119 drager van deficiëntie van dihydrolipoamidedehydrogenase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14436861000146116 drager van DLD-deficiëntie nl Synonym (core metadata concept) Active Only initial character 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
Carrier of dihydrolipoamide dehydrogenase deficiency	Is a	Genetic disorder carrier	true	Inferred relationship	Some
Carrier of dihydrolipoamide dehydrogenase deficiency	Interprets	General clinical state	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets