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28975000: Constitutional aplastic anemia (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
48508019 Constitutional aplastic anemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
484029012 Congenital aplastic anaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
484030019 Constitutional aplastic anaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
484031015 Congenital aplastic anemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
759715015 Constitutional aplastic anemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1216286014 Hypoplastic anaemia - familial en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1217785018 Hypoplastic anemia - familial en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
930591000195116 anemia aplastica costituzionale it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4483141000241114 anémie aplasique constitutionnelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
381311000274110 Angeborene aplastische Anämie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
661821000274116 Genetisch bedingte aplastische Anämie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

9 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Constitutional aplastic anemia Is a Aplastic anemia false Inferred relationship Some
Constitutional aplastic anemia Is a Anemia due to decreased red cell production false Inferred relationship Some
Constitutional aplastic anemia Interprets Decreased erythrocyte production false Inferred relationship Some
Constitutional aplastic anemia Finding site Erythrocyte (cell) false Inferred relationship Some
Constitutional aplastic anemia Finding site Bone marrow structure false Inferred relationship Some 1
Constitutional aplastic anemia Associated morphology Aplasia false Inferred relationship Some 1
Constitutional aplastic anemia Is a Aplastic anaemia false Inferred relationship Some
Constitutional aplastic anemia Has definitional manifestation Decreased erythrocyte production false Inferred relationship Some
Constitutional aplastic anemia Has definitional manifestation érythropénie false Inferred relationship Some
Constitutional aplastic anemia Finding site Bone structure false Inferred relationship Some
Constitutional aplastic anemia Associated morphology Aplasia false Inferred relationship Some 1
Constitutional aplastic anemia Finding site Bone marrow structure false Inferred relationship Some 1
Constitutional aplastic anemia Due to Decreased erythrocyte production true Inferred relationship Some 6
Constitutional aplastic anemia Is a Aplastic anaemia true Inferred relationship Some
Constitutional aplastic anemia Has definitional manifestation Cytopenia false Inferred relationship Some
Constitutional aplastic anemia Has interpretation Below reference range true Inferred relationship Some 2
Constitutional aplastic anemia Finding site Bone marrow structure true Inferred relationship Some 3
Constitutional aplastic anemia Associated morphology Aplasia true Inferred relationship Some 3
Constitutional aplastic anemia Interprets Platelet count true Inferred relationship Some 5
Constitutional aplastic anemia Is a Congenital thrombocytopenia (disorder) true Inferred relationship Some
Constitutional aplastic anemia Occurrence Congenital true Inferred relationship Some 3
Constitutional aplastic anemia Has interpretation Below reference range true Inferred relationship Some 1
Constitutional aplastic anemia Is a Congenital anomaly of the hematopoietic system true Inferred relationship Some
Constitutional aplastic anemia Has interpretation Below reference range true Inferred relationship Some 4
Constitutional aplastic anemia Has interpretation Below reference range true Inferred relationship Some 5
Constitutional aplastic anemia Interprets White blood cell count true Inferred relationship Some 2
Constitutional aplastic anemia Interprets Red blood cell count true Inferred relationship Some 4
Constitutional aplastic anemia Interprets Measurement of total haemoglobin concentration true Inferred relationship Some 1
Constitutional aplastic anemia Is a Bone marrow disorder false Inferred relationship Some
Constitutional aplastic anemia Is a Pancytopenia false Inferred relationship Some
Constitutional aplastic anemia Is a Cytopenia false Inferred relationship Some
Constitutional aplastic anemia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Constitutional aplastic anemia Is a Congenital anemia true Inferred relationship Some
Constitutional aplastic anemia Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 8
Constitutional aplastic anemia Has interpretation Abnormal false Inferred relationship Some 7
Constitutional aplastic anemia Interprets Hemostatic function true Inferred relationship Some 7
Constitutional aplastic anemia Has interpretation Abnormal true Inferred relationship Some 7
Inbound Relationships Type Active Source Characteristic Refinability Group
Constitutional aplastic anemia without mention of malformation Is a False Constitutional aplastic anemia Inferred relationship Some
Constitutional aplastic anemia with malformation Is a True Constitutional aplastic anemia Inferred relationship Some
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. Is a True Constitutional aplastic anemia Inferred relationship Some
Fanconi's anemia Is a True Constitutional aplastic anemia Inferred relationship Some
A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995. Is a True Constitutional aplastic anemia Inferred relationship Some
A rare constitutional aplastic anemia characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. Is a True Constitutional aplastic anemia Inferred relationship Some
Hereditary isolated aplastic anemia is a rare, genetic, constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion dependent. Is a True Constitutional aplastic anemia Inferred relationship Some
A rare constitutional aplastic anaemia characterised by aplastic anaemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioural problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukaemia. Is a True Constitutional aplastic anemia Inferred relationship Some

Reference Sets

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