111577008: Anemia due to enzyme deficiency (disorder)

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

\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\RBC count low\Erythropenia\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Erythropenia\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\RBC count low\Erythropenia\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Erythropenia\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency
\Evaluation finding\Measurement finding\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency
\Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency
\Evaluation finding\Hematopoietic system finding\Cytopenia\Erythropenia\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency

\Clinical history and observation findings\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency

\Finding by site\Disorder by body site (disorder)\Disorder of body system\Red blood cell disorder\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency

\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency
\Disease\Disorder by body site (disorder)\Disorder of body system\Red blood cell disorder\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency

Status: current, Necessary but not sufficient concept definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
178824016	Anemia due to enzyme deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	US English: Preferred (foundation metadata concept)
363863011	Anaemia due to enzyme deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
632808013	Anemia due to enzyme deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)

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	true	Inferred relationship	Some
Anemia due to enzyme deficiency	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Some
Anemia due to enzyme deficiency	Has definitional manifestation	Erythropenia	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
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	Interprets	Erythrocyte destruction	true	Inferred relationship	Some
Anemia due to enzyme deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Anemia due to enzyme deficiency	Interprets	Red blood cell count	true	Inferred relationship	Some	1
Anemia due to enzyme deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Anemia due to enzyme deficiency	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
HNSHA due to aldolase A deficiency	Is a	True	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
HNSHA due to triosephosphate isomerase deficiency	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
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide-methemoglobin reductase deficiency	Is a	False	Anemia due to enzyme deficiency	Inferred relationship	Some
HNSHA due to pyruvate kinase deficiency	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

Reference Sets

GB English

US English

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