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263654008: Abnormal (qualifier value)

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
391916010 Abnormal en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
655800016 Abnormal (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
139711000077111 anormal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2337331000195117 Abnorm de Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2337341000195113 Auffällig de Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Abnormal Is a Normality findings true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Platelet dysfunction caused by aspirin (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Thrombocytopenia due to defective platelet production Has interpretation False Abnormal Inferred relationship Some 3
Psychogenic voice disorder Has interpretation True Abnormal Inferred relationship Some 2
Pancytopenia with pancreatitis Has interpretation True Abnormal Inferred relationship Some 7
Speech and language deficit as late effect of cerebrovascular accident Has interpretation False Abnormal Inferred relationship Some 2
Scott syndrome Has interpretation False Abnormal Inferred relationship Some 2
Aplastic anaemia co-occurrent with human immunodeficiency virus infection Has interpretation True Abnormal Inferred relationship Some 8
Acquired epileptic aphasia Has interpretation True Abnormal Inferred relationship Some 3
Acquired inhibitor of coagulation Has interpretation True Abnormal Inferred relationship Some 2
Pure red cell aplasia, acquired Has interpretation False Abnormal Inferred relationship Some 7
Acquired stammering Has interpretation True Abnormal Inferred relationship Some 2
A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia. Has interpretation False Abnormal Inferred relationship Some 6
dysfonctionnement plaquettaire médicamenteux Has interpretation False Abnormal Inferred relationship Some 3
Cellular immunologic aplastic anemia Has interpretation True Abnormal Inferred relationship Some 8
Adductor spastic dysphonia of conversion reaction Has interpretation True Abnormal Inferred relationship Some 2
Resistance to activated protein C due to factor V Leiden mutation Has interpretation True Abnormal Inferred relationship Some 2
Harlequin ichthyosis Has interpretation True Abnormal Inferred relationship Some 4
Anticoagulant overdosage (disorder) Has interpretation False Abnormal Inferred relationship Some 2
Thrombophilia due to antineoplastic agent therapy Has interpretation True Abnormal Inferred relationship Some 2
Thrombophilia due to trauma (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Isolated collagen aggregation defect Has interpretation False Abnormal Inferred relationship Some 2
Thrombophilia due to myeloproliferative disorder Has interpretation True Abnormal Inferred relationship Some 2
Thrombocytopenia due to hypothermia Has interpretation True Abnormal Inferred relationship Some 4
Wiskott-Aldrich syndrome Has interpretation False Abnormal Inferred relationship Some 3
Primary antiphospholipid syndrome Has interpretation True Abnormal Inferred relationship Some 2
syndrome des antiphospholipides primaire avec atteinte organique ou systémique Has interpretation False Abnormal Inferred relationship Some 2
Language disorder associated with right hemisphere damage Has interpretation True Abnormal Inferred relationship Some 2
Speech and language developmental delay due to hearing loss (disorder) Has interpretation True Abnormal Inferred relationship Some 2
A rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others. Has interpretation True Abnormal Inferred relationship Some 2
Primary antiphospholipid syndrome with multisystem involvement Has interpretation True Abnormal Inferred relationship Some 2
Secondary antiphospholipid syndrome Has interpretation True Abnormal Inferred relationship Some 2
Language disorder associated with thought disorder Has interpretation True Abnormal Inferred relationship Some 2
syndrome des antiphospholipides secondaire avec atteinte organique ou systémique Has interpretation False Abnormal Inferred relationship Some 2
Secondary antiphospholipid syndrome with multisystem involvement Has interpretation True Abnormal Inferred relationship Some 2
Post-traumatic mutism Has interpretation False Abnormal Inferred relationship Some 2
Chronic idiopathic thrombocytopenic purpura (disorder) Has interpretation True Abnormal Inferred relationship Some 5
Language-related cognitive disorder Has interpretation True Abnormal Inferred relationship Some 3
Aplastic anaemia due to chronic disease Has interpretation True Abnormal Inferred relationship Some 8
Hemorrhagic disease of the newborn due to factor II deficiency Has interpretation True Abnormal Inferred relationship Some 4
Thrombophilia due to paroxysmal nocturnal haemoglobinuria Has interpretation True Abnormal Inferred relationship Some 2
Aplastic anemia due to infection Has interpretation False Abnormal Inferred relationship Some 8
Aphasia due to brain damage Has interpretation True Abnormal Inferred relationship Some 2
Platelet secretory disorder Has interpretation False Abnormal Inferred relationship Some 2
A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin. Has interpretation False Abnormal Inferred relationship Some 2
Aplastic anemia due to radiation Has interpretation True Abnormal Inferred relationship Some 8
Acute purpuric eruption of skin (disorder) Has interpretation False Abnormal Inferred relationship Some 4
Acquired factor VIII deficiency disease Has interpretation True Abnormal Inferred relationship Some 2
Acquired factor XI deficiency disease Has interpretation True Abnormal Inferred relationship Some 2
Metabolic purpura Has interpretation True Abnormal Inferred relationship Some 3
Acquired aplastic anemia Has interpretation True Abnormal Inferred relationship Some 7
Netherton syndrome Has interpretation True Abnormal Inferred relationship Some 3
Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities). Has interpretation True Abnormal Inferred relationship Some 2
Perinatal thrombocytopenia Has interpretation False Abnormal Inferred relationship Some 3
Congenital afibrinogenemia Has interpretation True Abnormal Inferred relationship Some 2
Childhood onset fluency disorder Has interpretation True Abnormal Inferred relationship Some 2
Secondary aplastic anemia Has interpretation True Abnormal Inferred relationship Some 7
Factor XI inhibitor disorder Has interpretation True Abnormal Inferred relationship Some 2
Factor IX inhibitor disorder Has interpretation True Abnormal Inferred relationship Some 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Has interpretation True Abnormal Inferred relationship Some 3
A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE). Has interpretation False Abnormal Inferred relationship Some 2
Thrombophilia due to acquired antithrombin III deficiency Has interpretation False Abnormal Inferred relationship Some 2
Developmental motor speech disorder Has interpretation True Abnormal Inferred relationship Some 2
Doan-Wright syndrome Has interpretation False Abnormal Inferred relationship Some 6
Glanzmann's thrombasthenia Has interpretation True Abnormal Inferred relationship Some 2
Vagal hoarseness Has interpretation True Abnormal Inferred relationship Some 2
Thrombocytopenia with congenital dyserythropoietic anemia is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. Has interpretation False Abnormal Inferred relationship Some 7
Platelet procoagulant activity deficiency Has interpretation True Abnormal Inferred relationship Some 2
Antiphospholipid syndrome in pregnancy Has interpretation True Abnormal Inferred relationship Some 2
Bernard Soulier syndrome Has interpretation True Abnormal Inferred relationship Some 3
Induced termination of pregnancy complicated by afibrinogenemia (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Factor XIII inhibitor disorder Has interpretation True Abnormal Inferred relationship Some 2
Aphonia paralytica Has interpretation True Abnormal Inferred relationship Some 2
Transient neonatal disorder of coagulation Has interpretation True Abnormal Inferred relationship Some 2
Warfarin overdosage Has interpretation False Abnormal Inferred relationship Some 2
Estren-Dameshek anemia Has interpretation True Abnormal Inferred relationship Some 7
Thrombophilia caused by vascular device (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Thrombophilia due to immobilisation Has interpretation True Abnormal Inferred relationship Some 2
A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated. Has interpretation True Abnormal Inferred relationship Some 3
Aplastic anemia caused by antineoplastic agent Has interpretation False Abnormal Inferred relationship Some 7
Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported. Has interpretation True Abnormal Inferred relationship Some 2
Factor X inhibitor disorder Has interpretation True Abnormal Inferred relationship Some 2
Antiphospholipid syndrome Has interpretation True Abnormal Inferred relationship Some 2
Congenital hypofibrinogenemia (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Ichthyosis hystrix Bäfverstedt type (disorder) Has interpretation True Abnormal Inferred relationship Some 3
Hereditary factor IX deficiency disease Has interpretation True Abnormal Inferred relationship Some 2
Acquired afibrinogenemia Has interpretation True Abnormal Inferred relationship Some 2
Dystonia-aphonia syndrome is a rare, genetic, persistent combined dystonia disorder characterized by slowly progressive, severe, caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties, and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (e.g. gingival or lingual hyperplasia), as well as delayed milestones and cognitive impairment. Has interpretation True Abnormal Inferred relationship Some 2
Congenital factor IX deficiency variant Has interpretation True Abnormal Inferred relationship Some 2
Purpura of skin co-occurrent and due to vascular fragility (disorder) Has interpretation True Abnormal Inferred relationship Some 4
Congenital factor IX deficiency with inhibitor Has interpretation True Abnormal Inferred relationship Some 2
Purpura of skin caused by mechanical force (disorder) Has interpretation False Abnormal Inferred relationship Some 2
maladie de von Willebrand congénitale Has interpretation False Abnormal Inferred relationship Some 2
Congenital von Willebrand's disease type I Has interpretation False Abnormal Inferred relationship Some 2
Acquired combined coagulation factor deficiency (disorder) Has interpretation True Abnormal Inferred relationship Some 2
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. Has interpretation True Abnormal Inferred relationship Some 7
Congenital von Willebrand's disease type II Has interpretation False Abnormal Inferred relationship Some 2
Congenital von Willebrand's disease type III Has interpretation False Abnormal Inferred relationship Some 2
Disseminated intravascular coagulation due to placental abruption (disorder) Has interpretation True Abnormal Inferred relationship Some 2
A rare bleeding disorder characterized by defects in von Willebrand factor, similar to those seen in hereditary von Willebrand disease (VWD), but which are caused by an underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies. Has interpretation True Abnormal Inferred relationship Some 2
Akinetic mutism Has interpretation True Abnormal Inferred relationship Some 2
von Willebrand factor inhibitor disorder Has interpretation True Abnormal Inferred relationship Some 2

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