FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

14087004: Hereditary stomatocytosis (disorder)

Status: current, 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
23981010 Hereditary stomatocytosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
23982015 Hereditary hydrocytosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
739994017 Hereditary stomatocytosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
868661000172115 maladie stomatocytique héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
955511000172110 stomatocytose héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2379511000195111 Hereditäre Stomatozytose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3433421001000112 Stomatozytose, hereditäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary stomatocytosis Is a Stomatocytosis true Inferred relationship Some
Hereditary stomatocytosis Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
Hereditary stomatocytosis Is a Hereditary disorder of hematologic system false Inferred relationship Some
Hereditary stomatocytosis Is a Erythrocyte enzyme deficiency true Inferred relationship Some
Hereditary stomatocytosis Finding site Erythrocyte (cell) true Inferred relationship Some 3
Hereditary stomatocytosis Finding site Hematopoietic system structure false Inferred relationship Some
Hereditary stomatocytosis Associated morphology Stomatocyte true Inferred relationship Some 4
Hereditary stomatocytosis Finding site Hematopoietic system structure false Inferred relationship Some
Hereditary stomatocytosis Has definitional manifestation érythropénie false Inferred relationship Some
Hereditary stomatocytosis Is a Hereditary red blood cell disorder (disorder) true Inferred relationship Some
Hereditary stomatocytosis Has interpretation Below reference range true Inferred relationship Some 1
Hereditary stomatocytosis Interprets Red blood cell count true Inferred relationship Some 1
Hereditary stomatocytosis Has interpretation Below reference range true Inferred relationship Some 2
Hereditary stomatocytosis Interprets Measurement of total haemoglobin concentration true Inferred relationship Some 2
Hereditary stomatocytosis Is a Hemoglobin below reference range (finding) true Inferred relationship Some
Hereditary stomatocytosis Is a Red blood cell count below reference range true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
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 False Hereditary stomatocytosis 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 Hereditary stomatocytosis 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 False Hereditary stomatocytosis 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 False Hereditary stomatocytosis 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 Hereditary stomatocytosis 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 Hereditary stomatocytosis Inferred relationship Some

This concept is not in any reference sets

Back to Start