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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
2530855016 Hereditary red blood cell disorder (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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

208 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 true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary red blood cell disorder (disorder) Is a Red blood cell disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary red blood cell disorder (disorder) Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary red blood cell disorder (disorder) Has definitional manifestation Red blood cell finding (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary red blood cell disorder (disorder) Finding site Erythrocyte true Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept)
Familial polycythaemia vera Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary persistence of fetal hemoglobin Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Sickle cell-thalassemia disease Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hemolytic anemia Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary sideroblastic anemia Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary pyropoikilocytosis Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder) Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hemoglobinopathy (disorder) Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fanconi's anemia Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Upshaw-Schulman syndrome (disorder) Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
elliptocytose congénitale Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial erythrocytosis Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pearson's syndrome Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary acanthocytosis (disorder) Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Phosphatidylcholine-sterol acyltransferase deficiency Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital transferrin deficiency (disorder) Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary methemoglobinemia, enzymatic type Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary stomatocytosis Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anaemia Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Glucose-6-phosphate dehydrogenase deficiency anemia Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypochromic microcytic anemia with iron overload (disorder) Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive sideroblastic anemia (disorder) Is a False Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset autosomal recessive sideroblastic anemia Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Autosomal recessive congenital methemoglobinemia (disorder) Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Primary CD59 deficiency Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant secondary polycythemia Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Overhydrated hereditary stomatocytosis (disorder) Is a True Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Southeast Asian ovalocytosis Is a True Hereditary red blood cell disorder (disorder) 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 Hereditary red blood cell disorder (disorder) 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 Hereditary red blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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