722125003: stomatocytose héréditaire avec hématies hyperhydratées (trouble)

• SNOMED CT Concept\constatation clinique\...
• \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)\Overhydrated hereditary stomatocytosis (disorder)
• \anémie\anémie causée par une anomalie constitutionnelle des érythrocytes\Stomatocytosis\Overhydrated hereditary stomatocytosis (disorder)
• \anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Overhydrated hereditary stomatocytosis (disorder)
• \anomalie de la lignée rouge\Erythrocyte enzyme deficiency\Overhydrated hereditary stomatocytosis (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Overhydrated hereditary stomatocytosis (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Overhydrated hereditary stomatocytosis (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Overhydrated hereditary stomatocytosis (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\anémie causée par une anomalie constitutionnelle des érythrocytes\Stomatocytosis\Overhydrated hereditary stomatocytosis (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Overhydrated hereditary stomatocytosis (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Erythrocyte enzyme deficiency\Overhydrated hereditary stomatocytosis (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Overhydrated hereditary stomatocytosis (disorder)
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Overhydrated hereditary stomatocytosis (disorder)
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Erythrocyte enzyme deficiency\Overhydrated hereditary stomatocytosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3330810015	Overhydrated hereditary stomatocytosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330811016	Overhydrated hereditary stomatocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
758311000241113	stomatocytose héréditaire avec hématies hyperhydratées (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
906851000172110	stomatocytose héréditaire avec hématies hyperhydratées	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
910731000172111	stomatocytose familiale avec hématies hyperhydratées	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3330812011	A disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. Very rare with only seven cases described in the literature so far. Onset occurs during the neonatal period or infancy with hemolytic anemia that may require occasional blood transfusions. Splenomegaly or hepatosplenomegaly are present. The disease course is marked by the usual complications of hemolytic anemia (biliary lithiasis) and, remarkably, by a strong tendency for iron overload. In the majority of cases, the disease it caused by mutations in the RHAG gene (6p21-qter) encoding the Rh-associated glycoprotein component of the Rh complex.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330813018	A disorder of red cell membrane permeability to monovalent cations and is characterised clinically by haemolytic anaemia. Very rare with only seven cases described in the literature so far. Onset occurs during the neonatal period or infancy with haemolytic anaemia that may require occasional blood transfusions. Splenomegaly or hepatosplenomegaly are present. The disease course is marked by the usual complications of haemolytic anaemia (biliary lithiasis) and, remarkably, by a strong tendency for iron overload. In the majority of cases, the disease it caused by mutations in the RHAG gene (6p21-qter) encoding the Rh-associated glycoprotein component of the Rh complex.	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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