773489008: cryohydrocytose héréditaire avec stomatine normale (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\numération des globules rouges basse (constatation)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\numération des globules rouges basse (constatation)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\numération des globules rouges basse (constatation)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
• \Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\numération des globules rouges basse (constatation)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
• \Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
• \constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\...
• \troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
• \anémie\anémie causée par une anomalie constitutionnelle des érythrocytes\Stomatocytosis\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
• \anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
• \anomalie de la lignée rouge\Erythrocyte enzyme deficiency\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\anémie causée par une anomalie constitutionnelle des érythrocytes\Stomatocytosis\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Erythrocyte enzyme deficiency\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Erythrocyte enzyme deficiency\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723693015	Hereditary cryohydrocytosis with normal stomatin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723694014	Hereditary cryohydrocytosis with normal stomatin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
771471000241116	cryohydrocytose héréditaire avec stomatine normale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
922561000172115	cryohydrocytose héréditaire avec stomatine normale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3723695010	A rare hereditary haemolytic anaemia due to a red cell membrane anomaly characterised by fatigue, mild anaemia and pseudohyperkalaemia 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. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723696011	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. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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