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111575000: Anemia due to membrane defect (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
178822017 Anemia due to membrane defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
363852013 Anaemia due to membrane defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
632798013 Anemia due to membrane defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5990541000241115 anémie due à un défaut de la membrane des globules rouges fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5990551000241117 anémie due à un défaut membranaire des érythrocytes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

26 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Anemia due to membrane defect Is a Anaemia due to intrinsic red cell abnormality true Inferred relationship Some
Anemia due to membrane defect Finding site Erythrocyte (cell) false Inferred relationship Some
Anemia due to membrane defect Associated morphology Defect false Inferred relationship Some
Anemia due to membrane defect Finding site Hematopoietic system structure false Inferred relationship Some
Anemia due to membrane defect Finding site Hematopoietic system structure false Inferred relationship Some
Anemia due to membrane defect Has definitional manifestation érythropénie false Inferred relationship Some
Anemia due to membrane defect Has interpretation Below reference range false Inferred relationship Some 1
Anemia due to membrane defect Interprets Measurement of total haemoglobin concentration false Inferred relationship Some 1
Anemia due to membrane defect Has interpretation Below reference range true Inferred relationship Some 2
Anemia due to membrane defect Interprets Red blood cell count true Inferred relationship Some 2
Anemia due to membrane defect Interprets Hemolysis (observable entity) true Inferred relationship Some 1
Anemia due to membrane defect Has interpretation Present (qualifier value) true Inferred relationship Some 1
Anemia due to membrane defect Is a Hemolytic anemia true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary spherocytosis Is a True Anemia due to membrane defect Inferred relationship Some
Infantile pyknocytosis (disorder) Is a True Anemia due to membrane defect Inferred relationship Some
Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. Is a True Anemia due to membrane defect Inferred relationship Some
Hereditary elliptocytosis Is a True Anemia due to membrane defect Inferred relationship Some
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 Anemia due to membrane defect 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 Anemia due to membrane defect 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 True Anemia due to membrane defect Inferred relationship Some
A rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. Is a True Anemia due to membrane defect Inferred relationship Some

This concept is not in any reference sets

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