48983004: X chromosome-linked 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
\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
\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
\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
\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
\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
\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
\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
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\X chromosome-linked 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

\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\X chromosome-linked sideroblastic anemia

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

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

Descriptions:

Id Description Lang Type Status Case? Module

81603013 X chromosome-linked sideroblastic anemia en Synonym Active Entire term case sensitive SNOMED CT core module
81604019 X chromosome-linked sideroblastic anemia, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
495279012 X chromosome-linked sideroblastic anaemia en Synonym Active Entire term case sensitive SNOMED CT core module
786611011 X chromosome-linked sideroblastic anemia en Fully specified name Inactive Entire term case sensitive SNOMED CT core module
2716922011 X chromosome-linked sideroblastic anemia (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
3657179014 X-linked sideroblastic anemia en Synonym Active Entire term case sensitive SNOMED CT core module
3657180012 X-linked sideroblastic anaemia en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

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	Existential restriction modifier
X chromosome-linked pyridoxine refractory sideroblastic anemia	Is a	True	X chromosome-linked sideroblastic anemia	Inferred relationship	Existential restriction modifier
X-linked sideroblastic anemia with spinocerebellar ataxia	Is a	True	X chromosome-linked sideroblastic anemia	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
81603013	X chromosome-linked sideroblastic anemia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
81604019	X chromosome-linked sideroblastic anemia, NOS	en	Synonym	Inactive	Only initial character case insensitive	SNOMED CT core module
495279012	X chromosome-linked sideroblastic anaemia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
786611011	X chromosome-linked sideroblastic anemia	en	Fully specified name	Inactive	Entire term case sensitive	SNOMED CT core module
2716922011	X chromosome-linked sideroblastic anemia (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3657179014	X-linked sideroblastic anemia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3657180012	X-linked sideroblastic anaemia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module