111577008: Anemia due to enzyme deficiency (disorder)

SNOMED CT Concept\constatation clinique\...

\Evaluation finding\Measurement finding\...

\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\numération des globules rouges basse (constatation)\Hemolytic anemia\Anemia due to enzyme deficiency
\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\numération des globules rouges basse (constatation)\Hemolytic anemia\Anemia due to enzyme deficiency
\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\numération des globules rouges basse (constatation)\Hemolytic anemia\Anemia due to enzyme deficiency

\Red blood cell count - finding\RBC count abnormal\numération des globules rouges basse (constatation)\Hemolytic anemia\Anemia due to enzyme deficiency

\constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\anémie\Anaemia due to metabolic disorder\Anemia due to enzymopathy (disorder)\Anemia due to enzyme deficiency
\constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\anémie\Hemolytic anemia\Anemia due to enzyme deficiency
\constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency
\constatation à propos du sang, des lymphatiques et du système immunitaire\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency

\constatation fonctionnelle\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency

\Disease\anomalie des éléments figurés du sang (trouble)\...

\anémie\Anaemia due to metabolic disorder\Anemia due to enzymopathy (disorder)\Anemia due to enzyme deficiency
\anémie\Hemolytic anemia\Anemia due to enzyme deficiency

\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Anemia due to enzyme deficiency	a pour interprétation (attribut)	présent (valeur de l'attribut)	false	Inferred relationship	Some	3
Anemia due to enzyme deficiency	interprète (attribut)	Hemolysis (observable entity)	false	Inferred relationship	Some	3
Anemia due to enzyme deficiency	est un(e) (attribut)	Anemia due to enzymopathy (disorder)	true	Inferred relationship	Some
Anemia due to enzyme deficiency	interprète (attribut)	Hemolysis (observable entity)	true	Inferred relationship	Some	2
Anemia due to enzyme deficiency	a pour interprétation (attribut)	présent (valeur de l'attribut)	true	Inferred relationship	Some	2
Anemia due to enzyme deficiency	Associated aetiologic finding	Enzymopathy	false	Inferred relationship	Some
Anemia due to enzyme deficiency	est défini par la manifestation de (attribut)	Erythropenia	false	Inferred relationship	Some
Anemia due to enzyme deficiency	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some
Anemia due to enzyme deficiency	Due to	Enzymopathy	true	Inferred relationship	Some	5
Anemia due to enzyme deficiency	est un(e) (attribut)	Hemolytic anemia	true	Inferred relationship	Some
Anemia due to enzyme deficiency	est défini par la manifestation de (attribut)	Hemolysis	false	Inferred relationship	Some
Anemia due to enzyme deficiency	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some
Anemia due to enzyme deficiency	localisation d'une constatation (attribut)	Erythrocyte	false	Inferred relationship	Some	4
Anemia due to enzyme deficiency	est un(e) (attribut)	Enzymopathy	false	Inferred relationship	Some
Anemia due to enzyme deficiency	est un(e) (attribut)	anémie	false	Inferred relationship	Some
Anemia due to enzyme deficiency	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	1
Anemia due to enzyme deficiency	a pour interprétation (attribut)	au-dessous de l'étendue de référence	false	Inferred relationship	Some	2
Anemia due to enzyme deficiency	interprète (attribut)	Red blood cell count	true	Inferred relationship	Some	1
Anemia due to enzyme deficiency	interprète (attribut)	Measurement of total haemoglobin concentration	false	Inferred relationship	Some	2
Anemia due to enzyme deficiency	interprète (attribut)	Erythrocyte destruction, function (observable entity)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency	est un(e) (attribut)	True	Anemia due to enzyme deficiency	Inferred relationship	Some
Hemolytic anemia due to red cell enolase deficiency (disorder)	est un(e) (attribut)	True	Anemia due to enzyme deficiency	Inferred relationship	Some
Drug-induced enzyme deficiency anemia	est un(e) (attribut)	True	Anemia due to enzyme deficiency	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	est un(e) (attribut)	True	Anemia due to enzyme deficiency	Inferred relationship	Some
Anaemia due to pentose phosphate pathway defect	est un(e) (attribut)	True	Anemia due to enzyme deficiency	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	est un(e) (attribut)	True	Anemia due to enzyme deficiency	Inferred relationship	Some
HNSHA due to phosphofructokinase deficiency	est un(e) (attribut)	True	Anemia due to enzyme deficiency	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to hexokinase deficiency (disorder)	est un(e) (attribut)	True	Anemia due to enzyme deficiency	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	est un(e) (attribut)	True	Anemia due to enzyme deficiency	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder)	est un(e) (attribut)	True	Anemia due to enzyme deficiency	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder)	est un(e) (attribut)	True	Anemia due to enzyme deficiency	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency (disorder)	est un(e) (attribut)	True	Anemia due to enzyme deficiency	Inferred relationship	Some
HNSHA due to phosphoglycerate kinase deficiency	est un(e) (attribut)	True	Anemia due to enzyme deficiency	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	est un(e) (attribut)	True	Anemia due to enzyme deficiency	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	est un(e) (attribut)	True	Anemia due to enzyme deficiency	Inferred relationship	Some
HNSHA due to NADH-methemoglobin reductase deficiency	est un(e) (attribut)	False	Anemia due to enzyme deficiency	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder)	est un(e) (attribut)	True	Anemia due to enzyme deficiency	Inferred relationship	Some
HNSHA due to decreased adenosine deaminase activity	est un(e) (attribut)	True	Anemia due to enzyme deficiency	Inferred relationship	Some
HNSHA due to aldolase A deficiency	est un(e) (attribut)	False	Anemia due to enzyme deficiency	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	est un(e) (attribut)	True	Anemia due to enzyme deficiency	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Description inactivation indicator reference set

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Id	Description	Lang	Type	Status	Case?	Module
178824016	Anemia due to enzyme deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
304301000077111	anémie causée par un déficit enzymatique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
363863011	Anaemia due to enzyme deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
587311000077117	anémie causée par un déficit enzymatique (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
632808013	Anemia due to enzyme deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core