124116001: D-lactaatdehydrogenasedeficiëntie (aandoening)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Lactate dehydrogenase deficiency\Deficiency of D-lactate dehydrogenase

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Lactate dehydrogenase deficiency\Deficiency of D-lactate dehydrogenase

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Lactate dehydrogenase deficiency\Deficiency of D-lactate dehydrogenase
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of D-lactate dehydrogenase
\Metabolic disease\Disorder of carbohydrate metabolism\Lactate dehydrogenase deficiency\Deficiency of D-lactate dehydrogenase

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

203517017 Deficiency of D-lactic acid dehydrogenase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

203518010 Deficiency of D-lactate dehydrogenase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

727601018 Deficiency of D-lactate dehydrogenase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5926841000146110 D-lactaatdehydrogenasedeficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5926851000146113 deficiëntie van D-lactaatdehydrogenase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5926861000146111 D-lactaatdehydrogenasedeficiëntie (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5926951000146116 D-LDH-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7016091000146113 deficiëntie van D-LDH-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
Deficiency of D-lactate dehydrogenase	Is a	Lactate dehydrogenase deficiency	true	Inferred relationship	Some
Deficiency of D-lactate dehydrogenase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of D-lactate dehydrogenase	Occurrence	Congenital	true	Inferred relationship	Some	1
Deficiency of D-lactate dehydrogenase	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