25443007: X chromosome-linked pyridoxine responsive sideroblastic anemia (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\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\numération des globules rouges basse (constatation)\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\numération des globules rouges basse (constatation)\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\numération des globules rouges basse (constatation)\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\numération des globules rouges basse (constatation)\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \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)\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \anémie\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \anémie\Sideroblastic anemia\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \Disease\Genetic disease\maladie héréditaire\Inherited disorder of porphyrin metabolism (disorder)\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\Sideroblastic anemia\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \Disease\trouble métabolique\Disorder of porphyrin metabolism\Inherited disorder of porphyrin metabolism (disorder)\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia
• \Disease\Congenital disease\Congenital anemia\X chromosome-linked sideroblastic anemia (disorder)\X chromosome-linked pyridoxine responsive sideroblastic anemia

Status: current, Not 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
42663012	X chromosome-linked pyridoxine responsive sideroblastic anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
42664018	Pyridoxine responsive sideroblastic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
482936010	X chromosome-linked pyridoxine responsive sideroblastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
482937018	Pyridoxine responsive sideroblastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
755761011	X chromosome-linked pyridoxine responsive sideroblastic anemia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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