55783001: deficiëntie van spiergebonden L-lactaatdehydrogenase (aandoening)

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

\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Muscle L-lactate dehydrogenase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Lactate dehydrogenase deficiency\Muscle L-lactate dehydrogenase deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Muscle L-lactate dehydrogenase deficiency
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Lactate dehydrogenase deficiency\Muscle L-lactate dehydrogenase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Muscle L-lactate dehydrogenase deficiency
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Muscle L-lactate dehydrogenase deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Lactate dehydrogenase deficiency\Muscle L-lactate dehydrogenase deficiency
\Disease\Metabolic disease\Enzymopathy\Muscle L-lactate dehydrogenase deficiency
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Lactate dehydrogenase deficiency\Muscle L-lactate dehydrogenase 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

92758017 Muscle L-lactate dehydrogenase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

794206016 Muscle L-lactate dehydrogenase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6066461000146110 spiergebonden L-lactaatdehydrogenasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6066481000146119 spiergebonden L-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)

9891981000146111 deficiëntie van spiergebonden L-lactaatdehydrogenase (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9891991000146113 deficiëntie van spiergebonden L-lactaatdehydrogenase 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
Muscle L-lactate dehydrogenase deficiency	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Muscle L-lactate dehydrogenase deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Muscle L-lactate dehydrogenase deficiency	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Muscle L-lactate dehydrogenase deficiency	Is a	Lactate dehydrogenase deficiency	true	Inferred relationship	Some
Muscle L-lactate dehydrogenase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Muscle L-lactate dehydrogenase deficiency	Finding site	Skeletal muscle system structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets