782911008: Hereditary cryohydrocytosis with reduced stomatin (disorder)

• 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 reduced stomatin
• \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 reduced stomatin
• \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 reduced stomatin
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \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 reduced stomatin
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\numération des globules rouges basse (constatation)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \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 reduced stomatin
• \anémie\anémie causée par une anomalie constitutionnelle des érythrocytes\Stomatocytosis\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \anomalie de la lignée rouge\Erythrocyte enzyme deficiency\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \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 reduced stomatin
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \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 reduced stomatin
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\anémie causée par une anomalie constitutionnelle des érythrocytes\Stomatocytosis\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Erythrocyte enzyme deficiency\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \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 reduced stomatin
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Erythrocyte enzyme deficiency\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\trouble du développement\Developmental hereditary disorder\Hereditary cryohydrocytosis with reduced stomatin

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3756658016	Hereditary cryohydrocytosis with reduced stomatin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756659012	Hereditary cryohydrocytosis with reduced stomatin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756660019	sdCHC - stomatin-deficient cryohydrocytosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756661015	Hereditary cryohydrocytosis type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756662010	CHC (hereditary cryohydrocytosis) type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756663017	Stomatin-deficient cryohydrocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756664011	A rare hemolytic anemia characterized by a 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. There is evidence the disease is caused by heterozygous mutation in the SLC2A1 gene on chromosome 1p34.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756665012	A rare haemolytic anaemia characterised by a combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders and haemolytic anaemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalaemia, haemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. There is evidence the disease is caused by heterozygous mutation in the SLC2A1 gene on chromosome 1p34.	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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