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234401000: Erythrocyte enzyme deficiency (disorder)

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
351187018 Erythrocyte enzyme deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
622714019 Erythrocyte enzyme deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
351187018 Erythrocyte enzyme deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
351187018 Erythrocyte enzyme deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
622714019 Erythrocyte enzyme deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
622714019 Erythrocyte enzyme deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6120461000241113 déficit enzymatique des érythrocytes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6120471000241117 déficit enzymatique érythrocytaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6120481000241115 déficit enzymatique des globules rouges fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6120461000241113 déficit enzymatique des érythrocytes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6120471000241117 déficit enzymatique érythrocytaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6120481000241115 déficit enzymatique des globules rouges fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

30 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Erythrocyte enzyme deficiency Is a Red blood cell disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Erythrocyte enzyme deficiency Finding site Hematopoietic system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Erythrocyte enzyme deficiency Finding site Erythrocyte true Inferred relationship Existential restriction modifier (core metadata concept) 1
Erythrocyte enzyme deficiency Finding site Hematopoietic system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Erythrocyte enzyme deficiency Has definitional manifestation Red blood cell finding (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Chronic non-spherocytic haemolytic anaemia Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Phosphoglycerokinase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Glucose phosphate isomerase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Triose phosphate isomerase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Muscle phosphofructokinase deficiency Is a False Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Uridine monophosphate hydrolase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Adenosine deaminase overproduction Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency Is a False Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder) Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of glucose-6-phosphate dehydrogenase (disorder) Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of hexokinase (disorder) Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary stomatocytosis Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to gamma glutamyl cysteine synthetase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder) Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder) Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to hexokinase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder) Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to glutathione reductase deficiency Is a False Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to glucose phosphate isomerase deficiency Is a False Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Is a False Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to phosphoglycerate kinase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to diphosphoglycerate mutase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia (HNSHA) due to reduced nicotinamide adenine dinucleotide (NADH)-methemoglobin reductase deficiency (disorder) Is a False Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity (disorder) Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of glutathione reductase (NAD(P)H) Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Screening test for red cell enzyme deficiency Has focus True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept) 2
Overhydrated hereditary stomatocytosis (disorder) Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Southeast Asian ovalocytosis Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Dehydrated hereditary stomatocytosis (DHS) is a rare haemolytic anaemia characterised by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated haemolysis. Pseudohyperkalaemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)
Familial pseudohyperkalemia (FP) is an inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. Is a True Erythrocyte enzyme deficiency Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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