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41841004: Sideroblastic anemia (disorder)

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

Descriptions:

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
913071000195114 anemia sideroblastica it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
303751000077114 anémie sidéroblastique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
381831000274112 Sideroachrestische Anämie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
441481000274114 Sideroblastische Anämie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

21 descendants. Search Descendants:

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 (cell) false Inferred relationship Some
Sideroblastic anemia Finding site Hematopoietic system structure false Inferred relationship Some
Sideroblastic anemia Finding site Hematopoietic system structure false Inferred relationship Some
Sideroblastic anemia Has definitional manifestation érythropénie 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 anemia Is a True Sideroblastic anemia Inferred relationship Some
Hereditary sideroblastic anemia Is a False Sideroblastic anemia Inferred relationship Some
Secondary acquired sideroblastic anaemia 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
cytopénie réfractaire avec dysplasie de multiples lignées et sidéroblastes en anneau 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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