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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
Giant platelet syndrome Has interpretation True Abnormal Inferred relationship Some 1
Factor XI deficiency Has interpretation True Abnormal Inferred relationship Some 1
Communication disorder Has interpretation True Abnormal Inferred relationship Some 1
Dysphonia Has interpretation True Abnormal Inferred relationship Some 1
Platelet membrane defect Has interpretation True Abnormal Inferred relationship Some 1
Discourse difficulties Has interpretation True Abnormal Inferred relationship Some 1
Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system. Has interpretation True Abnormal Inferred relationship Some 1
Word finding difficulty Has interpretation True Abnormal Inferred relationship Some 1
Haemorrhagic disorder due to increase in anti-9a Has interpretation True Abnormal Inferred relationship Some 1
Apraxic aphonia Has interpretation True Abnormal Inferred relationship Some 1
Drug induced thrombotic thrombocytopenic purpura (disorder) Has interpretation False Abnormal Inferred relationship Some 8
von Willebrand disease, type 1^a^ Has interpretation False Abnormal Inferred relationship Some 1
Cyclic thrombocytopenia Has interpretation True Abnormal Inferred relationship Some 2
Factor XI deficiency, type III Has interpretation True Abnormal Inferred relationship Some 1
Expressive language impairment Has interpretation False Abnormal Inferred relationship Some 1
A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. It may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of the disorder that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic purpura fulminans. Has interpretation True Abnormal Inferred relationship Some 4
Prothrombin complex deficiency Has interpretation True Abnormal Inferred relationship Some 1
Moderate disease manifests factor VIII activity of 2% to 5% of normal Has interpretation True Abnormal Inferred relationship Some 1
Factor VII deficiency Has interpretation True Abnormal Inferred relationship Some 1
Illegal abortion with afibrinogenemia Has interpretation False Abnormal Inferred relationship Some 1
A form of von Willebrand disease (VWD) characterised by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of VWD. Has interpretation True Abnormal Inferred relationship Some 1
Blood coagulation disorder complicating pregnancy (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Severe expressive language delay Has interpretation True Abnormal Inferred relationship Some 1
Hereditary hypoplasminogenemia Has interpretation True Abnormal Inferred relationship Some 1
Mixed receptive-expressive language disorder Has interpretation True Abnormal Inferred relationship Some 1
Secondary thrombocytopenia (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Developmental language disorder and impairment of expressive language Has interpretation True Abnormal Inferred relationship Some 1
Idiopathic factor VIII deficiency Has interpretation True Abnormal Inferred relationship Some 1
Mixed alpha granule and dense body deficiency Has interpretation True Abnormal Inferred relationship Some 1
Stellate pseudoscar in senile purpura (disorder) Has interpretation True Abnormal Inferred relationship Some 3
Hereditary factor II deficiency disease Has interpretation True Abnormal Inferred relationship Some 1
Secondary autoimmune thrombocytopenia Has interpretation True Abnormal Inferred relationship Some 2
Failed attempted abortion with defibrination syndrome (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Familial hemorrhagic diathesis Has interpretation True Abnormal Inferred relationship Some 1
Psychogenic vocal cord dysfunction (disorder) Has interpretation True Abnormal Inferred relationship Some 1
dermatite ocra di Favre Has interpretation False Abnormal Inferred relationship Some 2
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. Has interpretation True Abnormal Inferred relationship Some 4
Aphonia (disorder) Has interpretation True Abnormal Inferred relationship Some 1
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder) Has interpretation True Abnormal Inferred relationship Some 3
Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency. Has interpretation True Abnormal Inferred relationship Some 3
Semantic dysphasia Has interpretation True Abnormal Inferred relationship Some 1
Failed attempted abortion with afibrinogenemia (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Blood coagulation disorder with prolonged bleeding time (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Mediterranean thrombocytopenia Has interpretation True Abnormal Inferred relationship Some 2
Periodontitis co-occurrent with Chédiak-Higashi syndrome Has interpretation False Abnormal Inferred relationship Some 3
maladie de von Willebrand type 2M Has interpretation False Abnormal Inferred relationship Some 1
Hereditary factor X deficiency disease Has interpretation True Abnormal Inferred relationship Some 1
Vocal abuse in children Has interpretation True Abnormal Inferred relationship Some 1
Dystonic dysphonia Has interpretation False Abnormal Inferred relationship Some 1
maladie de von Willebrand type 2B Has interpretation False Abnormal Inferred relationship Some 1
Speech and language dyspraxias Has interpretation True Abnormal Inferred relationship Some 1
Blood coagulation disorder complicating childbirth Has interpretation True Abnormal Inferred relationship Some 1
Familial multiple factor deficiency syndrome Has interpretation True Abnormal Inferred relationship Some 1
Hemophilia Has interpretation True Abnormal Inferred relationship Some 1
Chronic acquired pure red cell aplasia Has interpretation False Abnormal Inferred relationship Some 6
Homozygous prothrombin G20210A mutation (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Familial multiple factor deficiency syndrome, type I Has interpretation True Abnormal Inferred relationship Some 1
Late onset diffuse bleeding diathesis secondary to vitamin K deficient hemorrhagic disease of fetus and newborn (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Spastic aphonia Has interpretation True Abnormal Inferred relationship Some 1
Steroid purpura Has interpretation True Abnormal Inferred relationship Some 2
Acquired factor IX deficiency disease Has interpretation True Abnormal Inferred relationship Some 1
Haemorrhagic disorder due to increase in anti-10a Has interpretation True Abnormal Inferred relationship Some 1
Non-thrombocytopenic purpura Has interpretation True Abnormal Inferred relationship Some 2
Postpartum coagulation defects Has interpretation True Abnormal Inferred relationship Some 1
Postpartum fibrinolysis with hemorrhage Has interpretation True Abnormal Inferred relationship Some 2
Ventricular band phonation Has interpretation True Abnormal Inferred relationship Some 1
Acquired pancytopenia Has interpretation True Abnormal Inferred relationship Some 5
von Willebrand disease, type IIE Has interpretation False Abnormal Inferred relationship Some 1
Fibrinogen abnormality Has interpretation True Abnormal Inferred relationship Some 1
Miscarriage with defibrination syndrome Has interpretation True Abnormal Inferred relationship Some 1
von Willebrand disease, type IIA Has interpretation False Abnormal Inferred relationship Some 1
Antiprothrombin disorder Has interpretation True Abnormal Inferred relationship Some 1
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). Has interpretation False Abnormal Inferred relationship Some 2
Capillary fragility abnormality Has interpretation True Abnormal Inferred relationship Some 3
thrombopénie due à une circulation sanguine extracorporelle Has interpretation False Abnormal Inferred relationship Some 2
Articulatory dyspraxia Has interpretation True Abnormal Inferred relationship Some 1
von Willebrand disease, type IIF Has interpretation False Abnormal Inferred relationship Some 1
Neonatal antiphospholipid syndrome is a rare, secondary, neonatal autoimmune disease characterized by single or recurrent episodes of venous, arterial or mixed thrombosis in a neonate whose mother does not have antiphospholipid syndrome manifestations. Patients present positive antiphospholipid antibodies and may have additional abnormalities associated (e.g. cardiac valve disease, livedo reticularis, thrombocytopenia, nephropathy, neurological manifestations). Has interpretation True Abnormal Inferred relationship Some 2
Acquired PF-3 disease Has interpretation True Abnormal Inferred relationship Some 2
Autosomal dominant deficiency of plasminogen Has interpretation True Abnormal Inferred relationship Some 1
High molecular weight kininogen deficiency Has interpretation True Abnormal Inferred relationship Some 1
Developmental language disorder and impairment of mainly pragmatic language Has interpretation True Abnormal Inferred relationship Some 1
Psychogenic adductor spastic dysphonia Has interpretation True Abnormal Inferred relationship Some 1
Pancytopenia-dysmelia Has interpretation False Abnormal Inferred relationship Some 5
Autoimmune factor VIII deficiency Has interpretation True Abnormal Inferred relationship Some 1
Secondary non-thrombocytopenic purpura Has interpretation True Abnormal Inferred relationship Some 2
Platelet factor V deficiency (factor V Quebec) Has interpretation True Abnormal Inferred relationship Some 1
Hyperglobulinemic purpura (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Dyspraxia of velopharynx Has interpretation True Abnormal Inferred relationship Some 1
Hereditary thrombophilia (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Cryofibrinogenemic purpura (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Immature articulatory praxis Has interpretation True Abnormal Inferred relationship Some 1
purpura thrombopénique idiopathique Has interpretation False Abnormal Inferred relationship Some 4
Stasis purpura Has interpretation True Abnormal Inferred relationship Some 2
Purpura due to increased intravascular pressure (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Cryoglobulinemic purpura Has interpretation True Abnormal Inferred relationship Some 2
Heterozygous protein S deficiency (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Acquired red cell aplasia Has interpretation False Abnormal Inferred relationship Some 6
Early onset diffuse bleeding diathesis secondary to vitamin K deficient hemorrhagic disease of fetus and newborn (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Hereditary factor XIII A subunit deficiency (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Exhausted platelets Has interpretation True Abnormal Inferred relationship Some 1

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