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414394009: Hereditary red blood cell disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2530855016 Hereditary red blood cell disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2534320019 Hereditary red blood cell disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5278881000241118 maladie héréditaire des globules rouges fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

215 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary red blood cell disorder (disorder) Is a Hereditary disorder of cellular element of blood (disorder) true Inferred relationship Some
Hereditary red blood cell disorder (disorder) Is a Red blood cell disorder true Inferred relationship Some
Hereditary red blood cell disorder (disorder) Finding site Body system structure false Inferred relationship Some
Hereditary red blood cell disorder (disorder) Has definitional manifestation Red blood cell finding false Inferred relationship Some
Hereditary red blood cell disorder (disorder) Finding site Erythrocyte (cell) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary hemoglobinopathy due to globin chain mutation Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Some
Familial polycythemia vera Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Some
Hereditary elliptocytosis Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Some
Hereditary persistence of fetal hemoglobin (disorder) Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Some
Sickle cell-thalassemia disease Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Some
Hereditary haemolytic anaemia Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Some
Hereditary sideroblastic anemia Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Some
Hereditary pyropoikilocytosis Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Some
Severe combined immunodeficiency with reticular dysgenesis (disorder) Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Some
Hereditary hemoglobinopathy (disorder) Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Some
Fanconi's anemia Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Some
Upshaw-Schulman syndrome (disorder) Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Some
elliptocytose congénitale Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Some
Familial erythrocytosis Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Some
Pearson's syndrome Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Some
Hereditary acanthocytosis Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Some
Phosphatidylcholine-sterol acyltransferase deficiency Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Some
Congenital transferrin deficiency Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Some
Hereditary methemoglobinemia, enzymatic type Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Some
Hereditary stomatocytosis Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Some
Congenital dyserythropoietic anemia Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Some
Glucose-6-phosphate dehydrogenase deficiency anemia Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Some
Hypochromic microcytic anemia with iron overload (disorder) Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Some
Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin. Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Some
A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes. Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Some
A rare genetic disease characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991. Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Some
A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977. Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Some
A constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid. Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Some
A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) types I and II (RCM/RHM type 1; RCM/RHM type 2). In RCM type 1, cyanosis from birth is the only symptom. RCM type 2 is much more severe; the cyanosis is accompanied by neurological dysfunction (with intellectual deficit, microcephaly, growth retardation, opisthotonus, strabismus and hypertonia), which usually becomes evident during the first four months of life. RCM type 1 is caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes. RCM type 2 is caused by global loss of Cb5R function. RCM type 1 is generally associated with missense mutations, whereas RCM type 2 is more commonly associated with truncating mutations, splicing errors or mutations that lead to disruption of the active site. Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Some
A rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation). Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Some
A rare, genetic, haematologic disease characterised by increased levels of serum haemoglobin, haematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance. Is a True Hereditary red blood cell disorder (disorder) 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 Hereditary red blood cell disorder (disorder) 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 Hereditary red blood cell disorder (disorder) 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 Hereditary red blood cell disorder (disorder) 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 Hereditary red blood cell disorder (disorder) Inferred relationship Some
Congenital methemoglobinemia Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Some

This concept is not in any reference sets

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