21412009: X-gebonden pyridoxine refractaire sideroblastische anemie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Laboratory test finding (finding)\Hematopoietic system finding\...

\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia

\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...

\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia

\Anemia\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia
\Anemia\Sideroblastic anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism (disorder)\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Sideroblastic anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia
\Disease\Metabolic disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism (disorder)\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia
\Disease\Metabolic disease\Disorder of porphyrin metabolism\Inherited disorder of porphyrin metabolism (disorder)\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine refractory sideroblastic anemia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X chromosome-linked pyridoxine refractory sideroblastic anemia	Is a	Sex-linked hereditary disorder	false	Inferred relationship	Some
X chromosome-linked pyridoxine refractory sideroblastic anemia	Is a	hereditaire sideroblastische anemie	false	Inferred relationship	Some
X chromosome-linked pyridoxine refractory sideroblastic anemia	Finding site	Erythrocyte	false	Inferred relationship	Some
X chromosome-linked pyridoxine refractory sideroblastic anemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
X chromosome-linked pyridoxine refractory sideroblastic anemia	Occurrence	Congenital	false	Inferred relationship	Some
X chromosome-linked pyridoxine refractory sideroblastic anemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
X chromosome-linked pyridoxine refractory sideroblastic anemia	Has definitional manifestation	erytropenie (bevinding)	false	Inferred relationship	Some
X chromosome-linked pyridoxine refractory sideroblastic anemia	Finding site	Body system structure	false	Inferred relationship	Some
X chromosome-linked pyridoxine refractory sideroblastic anemia	Has interpretation	Below reference range	true	Inferred relationship	Some	1
X chromosome-linked pyridoxine refractory sideroblastic anemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	1
X chromosome-linked pyridoxine refractory sideroblastic anemia	Has interpretation	Below reference range	true	Inferred relationship	Some	2
X chromosome-linked pyridoxine refractory sideroblastic anemia	Interprets	Red blood cell count	true	Inferred relationship	Some	2
X chromosome-linked pyridoxine refractory sideroblastic anemia	Occurrence	Congenital	true	Inferred relationship	Some	3
X chromosome-linked pyridoxine refractory sideroblastic anemia	Is a	X chromosome-linked sideroblastic anemia	true	Inferred relationship	Some
X chromosome-linked pyridoxine refractory sideroblastic anemia	Finding site	Erythrocyte	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
35945017	X chromosome-linked pyridoxine refractory sideroblastic anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
481018014	X chromosome-linked pyridoxine refractory sideroblastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
750705019	X chromosome-linked pyridoxine refractory sideroblastic anemia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6151101000146110	X-gebonden vitamine B6-resistente sideroblastaire bloedarmoede	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6678281000146118	X-gebonden pyridoxine refractaire sideroblastische anemie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6678291000146116	X-gebonden pyridoxine refractaire sideroblastische anemie (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)