48983004: X-gebonden 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

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

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

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\X chromosome-linked 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
\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
\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
\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
\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
\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
\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

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

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X chromosome-linked sideroblastic anemia	Is a	Sideroblastic anemia	true	Inferred relationship	Some
X chromosome-linked sideroblastic anemia	Is a	Inherited disorder of porphyrin metabolism (disorder)	true	Inferred relationship	Some
X chromosome-linked sideroblastic anemia	Interprets	Red blood cell count	true	Inferred relationship	Some	2
X chromosome-linked sideroblastic anemia	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X chromosome-linked sideroblastic anemia	Has interpretation	Below reference range	true	Inferred relationship	Some	2
X chromosome-linked sideroblastic anemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	1
X chromosome-linked sideroblastic anemia	Occurrence	Congenital	true	Inferred relationship	Some	3
X chromosome-linked sideroblastic anemia	Has interpretation	Below reference range	true	Inferred relationship	Some	1
X chromosome-linked sideroblastic anemia	Finding site	Erythrocyte	true	Inferred relationship	Some	3
X chromosome-linked sideroblastic anemia	Is a	Hereditary red blood cell disorder (disorder)	true	Inferred relationship	Some
X chromosome-linked sideroblastic anemia	Is a	Congenital anemia	true	Inferred relationship	Some
X chromosome-linked sideroblastic anemia	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
X chromosome-linked sideroblastic anemia	Is a	Hereditary metabolic disease	false	Inferred relationship	Some
X chromosome-linked sideroblastic anemia	Is a	hereditaire sideroblastische anemie	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X chromosome-linked pyridoxine responsive sideroblastic anemia	Is a	True	X chromosome-linked sideroblastic anemia	Inferred relationship	Some
X chromosome-linked pyridoxine refractory sideroblastic anemia	Is a	True	X chromosome-linked sideroblastic anemia	Inferred relationship	Some
X-linked sideroblastic anemia with spinocerebellar ataxia	Is a	True	X chromosome-linked sideroblastic anemia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
81603013	X chromosome-linked sideroblastic anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
495279012	X chromosome-linked sideroblastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2716922011	X chromosome-linked sideroblastic anemia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3657179014	X-linked sideroblastic anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3657180012	X-linked sideroblastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6151241000146116	X-gebonden sideroblastische anemie (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6151251000146118	X-gebonden sideroblastaire bloedarmoede	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6151261000146115	XLSA	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6151271000146114	X-gebonden sideroblastische anemie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3657181011	A constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3657182016	A constitutional microcytic, hypochromic anaemia of varying severity that is clinically characterised by manifestations of anaemia and iron overload and that may respond to treatment with pyridoxine and folic acid.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core