25443007: X chromosome-linked pyridoxine responsive sideroblastic anemia (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Finding of substance level\Finding of protein level\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine responsive sideroblastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine responsive sideroblastic anemia
\Evaluation finding\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 responsive sideroblastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Hemoglobin below reference range\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine responsive sideroblastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine responsive sideroblastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine responsive sideroblastic anemia
\Evaluation finding\Measurement finding\Finding of red blood cell count\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine responsive sideroblastic anemia
\Evaluation finding\Hematopoietic system finding\Hematology test outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine responsive sideroblastic anemia
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine responsive sideroblastic anemia

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

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

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

\Red blood cell disorder\Hereditary red blood cell disorder\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine responsive sideroblastic anemia

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine responsive sideroblastic anemia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine responsive 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 responsive sideroblastic anemia
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine responsive sideroblastic anemia
\Disease\Disorder of cellular component of blood\Anemia\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine responsive sideroblastic anemia
\Disease\Disorder of cellular component of blood\Anemia\Sideroblastic anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine responsive sideroblastic anemia
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine responsive sideroblastic anemia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine responsive sideroblastic anemia
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine responsive sideroblastic anemia
\Disease\Metabolic disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine responsive sideroblastic anemia
\Disease\Metabolic disease\Disorder of porphyrin metabolism\Inherited disorder of porphyrin metabolism\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine responsive sideroblastic anemia
\Disease\Congenital disease\Congenital anemia\X chromosome-linked sideroblastic anemia\X chromosome-linked pyridoxine responsive sideroblastic anemia

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

Descriptions:

Id Description Lang Type Status Case? Module

42663012 X chromosome-linked pyridoxine responsive sideroblastic anemia en Synonym Active Entire term case sensitive SNOMED CT core module

42664018 Pyridoxine responsive sideroblastic anemia en Synonym Active Entire term case insensitive SNOMED CT core module

482936010 X chromosome-linked pyridoxine responsive sideroblastic anaemia en Synonym Active Entire term case sensitive SNOMED CT core module

482937018 Pyridoxine responsive sideroblastic anaemia en Synonym Active Entire term case insensitive SNOMED CT core module

755761011 X chromosome-linked pyridoxine responsive sideroblastic anemia (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X chromosome-linked pyridoxine responsive sideroblastic anemia	Is a	Hereditary sideroblastic anemia	false	Inferred relationship	Existential restriction modifier
X chromosome-linked pyridoxine responsive sideroblastic anemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
X chromosome-linked pyridoxine responsive sideroblastic anemia	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier
X chromosome-linked pyridoxine responsive sideroblastic anemia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
X chromosome-linked pyridoxine responsive sideroblastic anemia	Has definitional manifestation	Erythropenia	false	Inferred relationship	Existential restriction modifier
X chromosome-linked pyridoxine responsive sideroblastic anemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
X chromosome-linked pyridoxine responsive sideroblastic anemia	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
X chromosome-linked pyridoxine responsive sideroblastic anemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	1
X chromosome-linked pyridoxine responsive sideroblastic anemia	Interprets	Measurement of total hemoglobin concentration	true	Inferred relationship	Existential restriction modifier	1
X chromosome-linked pyridoxine responsive sideroblastic anemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	2
X chromosome-linked pyridoxine responsive sideroblastic anemia	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier	2
X chromosome-linked pyridoxine responsive sideroblastic anemia	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier	3
X chromosome-linked pyridoxine responsive sideroblastic anemia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
X chromosome-linked pyridoxine responsive sideroblastic anemia	Is a	X chromosome-linked sideroblastic anemia	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
42663012	X chromosome-linked pyridoxine responsive sideroblastic anemia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
42664018	Pyridoxine responsive sideroblastic anemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
482936010	X chromosome-linked pyridoxine responsive sideroblastic anaemia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
482937018	Pyridoxine responsive sideroblastic anaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
755761011	X chromosome-linked pyridoxine responsive sideroblastic anemia (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module