41841004: Sideroblastic anemia (disorder)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Sideroblastic anemia

\Disease\Disorder of cellular component of blood (disorder)\Anemia\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
Sideroblastic anemia	Is a	Anemia	true	Inferred relationship	Some
Sideroblastic anemia	Finding site	Erythrocyte	false	Inferred relationship	Some
Sideroblastic anemia	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Sideroblastic anemia	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Sideroblastic anemia	Has definitional manifestation	Erytrocytopeni	false	Inferred relationship	Some
Sideroblastic anemia	Has interpretation	Below reference range	false	Inferred relationship	Some	1
Sideroblastic anemia	Interprets	Measurement of total haemoglobin concentration	false	Inferred relationship	Some	1
Sideroblastic anemia	Has interpretation	Below reference range	false	Inferred relationship	Some	2
Sideroblastic anemia	Interprets	Red blood cell count	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Myelodysplastic syndrome with ring sideroblasts and single lineage dysplasia (disorder)	Is a	True	Sideroblastic anemia	Inferred relationship	Some
Pearson's syndrome	Is a	True	Sideroblastic anemia	Inferred relationship	Some
Idiopathic sideroblastic anemia	Is a	True	Sideroblastic anemia	Inferred relationship	Some
Autosomal-linked pyridoxine refractory sideroblastic anaemia	Is a	True	Sideroblastic anemia	Inferred relationship	Some
hereditær sideroblastanæmi	Is a	False	Sideroblastic anemia	Inferred relationship	Some
Secondary acquired sideroblastic anemia	Is a	True	Sideroblastic anemia	Inferred relationship	Some
Pyridoxine-responsive sideroblastic anemia	Is a	True	Sideroblastic anemia	Inferred relationship	Some
Sideroblastic anemia NOS	Is a	False	Sideroblastic anemia	Inferred relationship	Some
[X]Other sideroblastic anemias	Is a	False	Sideroblastic anemia	Inferred relationship	Some
Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.	Is a	True	Sideroblastic anemia	Inferred relationship	Some
A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.	Is a	True	Sideroblastic anemia	Inferred relationship	Some
A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.	Is a	False	Sideroblastic anemia	Inferred relationship	Some
Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidemia, and mitochondrial myopathy.	Is a	True	Sideroblastic anemia	Inferred relationship	Some
STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.	Is a	True	Sideroblastic anemia	Inferred relationship	Some
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.	Is a	True	Sideroblastic anemia	Inferred relationship	Some
A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness.	Is a	True	Sideroblastic anemia	Inferred relationship	Some
Autosomal dominant sideroblastic anemia (disorder)	Is a	True	Sideroblastic anemia	Inferred relationship	Some
Refraktær cytopeni med multilineær dysplasi og sideroblaster	Is a	False	Sideroblastic anemia	Inferred relationship	Some
A rare mitochondrial disease characterized by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anemia, followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal disease, seizures, thrombocytopenia, and sideroblastic anemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients surviving the neonatal period and showing sensorineural hearing loss and developmental delay have been reported.	Is a	True	Sideroblastic anemia	Inferred relationship	Some
Myelodysplastic neoplasm with low blasts and SF3B1 mutation	Is a	True	Sideroblastic anemia	Inferred relationship	Some

Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
178820013	Sideroblastic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
189728011	Primary sideroblastic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
189729015	Refractory sideroblastic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
189730013	Sideroachrestic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
493117013	Primary sideroblastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
493118015	Sideroachrestic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
493119011	Refractory sideroblastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
493120017	Sideroblastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
778675011	Sideroblastic anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1996561000005110	Sideroblastanæmi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)