234409003: Erythrocyte membrane abnormality (disorder)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte membrane abnormality

\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte membrane abnormality
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte membrane abnormality

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

351205018 Erythrocyte membrane abnormality en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

622723016 Erythrocyte membrane abnormality (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2118681000005118 Erytrocytmembranabnormitet da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Erythrocyte membrane abnormality	Is a	Red blood cell disorder	true	Inferred relationship	Some
Erythrocyte membrane abnormality	Finding site	Erythrocyte	true	Inferred relationship	Some	1
Erythrocyte membrane abnormality	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Erythrocyte membrane abnormality	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Erythrocyte membrane abnormality	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Kongenit elliptocytose	Is a	False	Erythrocyte membrane abnormality	Inferred relationship	Some
Hereditary elliptocytosis	Is a	True	Erythrocyte membrane abnormality	Inferred relationship	Some
Hereditary elliptocytosis with transient poikilocytosis	Is a	False	Erythrocyte membrane abnormality	Inferred relationship	Some
Blood group deletion syndrome	Is a	True	Erythrocyte membrane abnormality	Inferred relationship	Some
Abnormal cation transport syndrome	Is a	True	Erythrocyte membrane abnormality	Inferred relationship	Some
alfa/beta-lipoproteinæmi	Is a	False	Erythrocyte membrane abnormality	Inferred relationship	Some
A rare lipoprotein metabolism disorder characterised clinically by corneal opacities and sometimes renal failure and haemolytic anaemia, and biochemically by severely reduced HDL cholesterol. Age of onset is variable but most patients are diagnosed during adulthood. Two familial forms of LCAT deficiency have been reported: familial LCAT deficiency characterised by corneal opacities, anaemia and renal insufficiency and Fish-eye disease characterised by corneal opacities and sometimes atherosclerosis. LCAT deficiency is caused by deficient or absent catalytic activity of the LCAT enzyme, which catalyses the formation of cholesterol esters in lipoproteins and is encoded by the LCAT gene (16q22.1). Accumulation of unesterified cholesterol in the body for example in the cornea, erythrocytes and kidneys, is thought to underlie the clinical manifestations.	Is a	False	Erythrocyte membrane abnormality	Inferred relationship	Some
March hemoglobinuria	Is a	False	Erythrocyte membrane abnormality	Inferred relationship	Some
Hereditary acanthocytosis	Is a	True	Erythrocyte membrane abnormality	Inferred relationship	Some
Rh deficiency syndrome	Is a	True	Erythrocyte membrane abnormality	Inferred relationship	Some
Phosphatidylcholin-sterol-acyltransferasemangel	Is a	False	Erythrocyte membrane abnormality	Inferred relationship	Some
Hereditary spherocytosis	Is a	True	Erythrocyte membrane abnormality	Inferred relationship	Some
Hereditary pyropoikilocytosis	Is a	True	Erythrocyte membrane abnormality	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set