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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
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 Some
Erythrocyte enzyme deficiency Finding site Hematopoietic system structure false Inferred relationship Some
Erythrocyte enzyme deficiency Finding site Erythrocyte (cell) true Inferred relationship Some 1
Erythrocyte enzyme deficiency Finding site Hematopoietic system structure false Inferred relationship Some
Erythrocyte enzyme deficiency Has definitional manifestation Red blood cell finding false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Chronic non-spherocytic haemolytic anaemia Is a True Erythrocyte enzyme deficiency Inferred relationship Some
Phosphoglycerokinase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Some
Glucose phosphate isomerase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Some
Triose phosphate isomerase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Some
Muscle phosphofructokinase deficiency Is a False Erythrocyte enzyme deficiency Inferred relationship Some
Uridine monophosphate hydrolase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Some
Adenosine deaminase overproduction Is a True Erythrocyte enzyme deficiency Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency Is a False Erythrocyte enzyme deficiency Inferred relationship Some
HNSHA due to glutathione synthetase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Some
Deficiency of glucose-6-phosphate dehydrogenase Is a True Erythrocyte enzyme deficiency Inferred relationship Some
Deficiency of hexokinase Is a True Erythrocyte enzyme deficiency Inferred relationship Some
Hereditary stomatocytosis Is a True Erythrocyte enzyme deficiency Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Some
HNSHA due to pyrimidine-5'-nucleotidase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Some
HNSHA due to phosphofructokinase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Some
HNSHA due to hexokinase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Some
HNSHA due to triosephosphate isomerase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Some
HNSHA due to NADH diaphorase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Some
HNSHA due to glutathione reductase deficiency Is a False Erythrocyte enzyme deficiency Inferred relationship Some
HNSHA due to glucose phosphate isomerase deficiency Is a False Erythrocyte enzyme deficiency Inferred relationship Some
A rare genetic haematologic disease characterised by mild chronic haemolytic anaemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinaemia. Other cells and tissues are not affected. Is a False Erythrocyte enzyme deficiency Inferred relationship Some
HNSHA due to phosphoglycerate kinase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Some
HNSHA due to diphosphoglycerate mutase deficiency Is a True Erythrocyte enzyme deficiency Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide-methemoglobin reductase deficiency Is a False Erythrocyte enzyme deficiency Inferred relationship Some
HNSHA due to decreased adenosine deaminase activity Is a True Erythrocyte enzyme deficiency Inferred relationship Some
Deficiency of glutathione reductase (NAD(P)H) Is a True Erythrocyte enzyme deficiency Inferred relationship Some
Screening test for red cell enzyme deficiency (procedure) Has focus True Erythrocyte enzyme deficiency Inferred relationship Some 2
Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. Is a True Erythrocyte enzyme deficiency Inferred relationship Some
Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones. Is a True Erythrocyte enzyme deficiency Inferred relationship Some
Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Is a True Erythrocyte enzyme deficiency Inferred relationship Some
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 False Erythrocyte enzyme deficiency Inferred relationship Some

This concept is not in any reference sets

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