111577008: anemie door enzymdeficiëntie (aandoening)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to metabolic disorder\Anemia due to enzymopathy (disorder)\Anemia due to enzyme deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency

\Procedure related finding\Evaluation finding\Measurement finding\...

\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hemolytic anemia\Anemia due to enzyme deficiency
\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Anemia due to enzyme deficiency
\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Anemia due to enzyme deficiency

\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hemolytic anemia\Anemia due to enzyme deficiency

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

\Disease\Disorder of cellular component of blood (disorder)\...

\Anemia\Anaemia due to metabolic disorder\Anemia due to enzymopathy (disorder)\Anemia due to enzyme deficiency
\Anemia\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	Is a	Enzymopathy	false	Inferred relationship	Some
Anemia due to enzyme deficiency	Is a	Anemia	false	Inferred relationship	Some
Anemia due to enzyme deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Anemia due to enzyme deficiency	Finding site	Erythrocyte	false	Inferred relationship	Some	4
Anemia due to enzyme deficiency	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Some
Anemia due to enzyme deficiency	Has definitional manifestation	erytropenie (bevinding)	false	Inferred relationship	Some
Anemia due to enzyme deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Anemia due to enzyme deficiency	Due to	Enzymopathy	true	Inferred relationship	Some	5
Anemia due to enzyme deficiency	Is a	Hemolytic anemia	true	Inferred relationship	Some
Anemia due to enzyme deficiency	Has definitional manifestation	Hemolysis	false	Inferred relationship	Some
Anemia due to enzyme deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Anemia due to enzyme deficiency	Has interpretation	Below reference range	false	Inferred relationship	Some	2
Anemia due to enzyme deficiency	Interprets	Red blood cell count	true	Inferred relationship	Some	1
Anemia due to enzyme deficiency	Interprets	Measurement of total haemoglobin concentration	false	Inferred relationship	Some	2
Anemia due to enzyme deficiency	Interprets	Erythrocyte destruction	false	Inferred relationship	Some
Anemia due to enzyme deficiency	Has interpretation	Present	false	Inferred relationship	Some	3
Anemia due to enzyme deficiency	Interprets	Hemolysis (observable entity)	false	Inferred relationship	Some	3
Anemia due to enzyme deficiency	Is a	Anemia due to enzymopathy (disorder)	true	Inferred relationship	Some
Anemia due to enzyme deficiency	Interprets	Hemolysis (observable entity)	true	Inferred relationship	Some	2
Anemia due to enzyme deficiency	Has interpretation	Present	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Is a	False	Anemia due to enzyme deficiency	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Is a	True	Anemia due to enzyme deficiency	Inferred relationship	Some
Drug-induced enzyme deficiency anemia	Is a	True	Anemia due to enzyme deficiency	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Is a	True	Anemia due to enzyme deficiency	Inferred relationship	Some
Anemia due to pentose phosphate pathway defect	Is a	True	Anemia due to enzyme deficiency	Inferred relationship	Some
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Is a	True	Anemia due to enzyme deficiency	Inferred relationship	Some
HNSHA due to phosphofructokinase deficiency	Is a	True	Anemia due to enzyme deficiency	Inferred relationship	Some
HNSHA due to hexokinase deficiency	Is a	True	Anemia due to enzyme deficiency	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Is a	True	Anemia due to enzyme deficiency	Inferred relationship	Some
HNSHA due to NADH diaphorase deficiency	Is a	True	Anemia due to enzyme deficiency	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder)	Is a	True	Anemia due to enzyme deficiency	Inferred relationship	Some
HNSHA due to glucose phosphate isomerase deficiency	Is a	True	Anemia due to enzyme deficiency	Inferred relationship	Some
HNSHA due to phosphoglycerate kinase deficiency	Is a	True	Anemia due to enzyme deficiency	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Is a	True	Anemia due to enzyme deficiency	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	Is a	True	Anemia due to enzyme deficiency	Inferred relationship	Some
erfelijke niet-sferocytaire hemolytische anemie door NADH-methemoglobinereductasedeficiëntie (aandoening)	Is a	False	Anemia due to enzyme deficiency	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder)	Is a	True	Anemia due to enzyme deficiency	Inferred relationship	Some
HNSHA due to decreased adenosine deaminase activity	Is a	True	Anemia due to enzyme deficiency	Inferred relationship	Some
Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency	Is a	True	Anemia due to enzyme deficiency	Inferred relationship	Some
Hemolytic anemia due to red cell enolase deficiency (disorder)	Is a	True	Anemia due to enzyme deficiency	Inferred relationship	Some
Anemia due to deficiency of glycolytic enzymes (disorder)	Is a	True	Anemia due to enzyme deficiency	Inferred relationship	Some

Reference Sets

GB English

US English

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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
363863011	Anaemia due to enzyme deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
632808013	Anemia due to enzyme deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
364241000146116	anemie door enzymdeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
364251000146118	anemie door enzymdeficiëntie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)