263654008: Abnormal (qualifier value)

SNOMED CT Concept\Qualifier value (qualifier value)\Finding value (qualifier value)\Normality findings\Abnormal

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
Abnormal	Is a	Normality findings	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Developmental speech fluency disorder (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
A rare inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.	Has interpretation	True	Abnormal	Inferred relationship	Some	1
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.	Has interpretation	False	Abnormal	Inferred relationship	Some	2
Verbal dyspraxia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hereditary von Willebrand disease type 2N (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Grapheme-phoneme conversion deficit	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Thrombocytosis	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Central auditory processing disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Amegakaryocytic thrombocytopenia	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Conversational disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	1
trouble de la coagulation du post-partum conséquences postnatales	Has interpretation	False	Abnormal	Inferred relationship	Some	1
A rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Lexical syntactic disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Familial multiple factor deficiency syndrome, type V	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Dense body defect	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Transient neonatal thrombocytopenia due to exchange transfusion	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Restricted expressive language development	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Prekallikrein deficiency	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Anticoagulant-induced bleeding	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Primary thrombocytopenia	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Fluency disorder as sequela of cerebrovascular disease	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Disseminated intravascular coagulation in newborn	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Protein C deficiency disease	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hemorrhagic disorder due to circulating anticoagulants	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hypodysfibrinogenaemia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Developmental delay in receptive-expressive language (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
A severe form of hemophilia A characterized by a large deficiency of factor VIII (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hereditary von Willebrand disease type 1A	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.	Has interpretation	False	Abnormal	Inferred relationship	Some	4
Hyperfunctional dysphonia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Mild hereditary factor VIII deficiency disease with inhibitor (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hereditary dysplasminogenemia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Oral apraxia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Idiopathic stammering	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Cognitive communication disorder (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Transcortical sensory dysphasia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hereditary factor VIII deficiency disease with inhibitor (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Aplastic anemia associated with pregnancy (disorder)	Has interpretation	False	Abnormal	Inferred relationship	Some	6
Purpura simplex	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Benign primary hypergammaglobulinemic purpura	Has interpretation	True	Abnormal	Inferred relationship	Some	2
A mild form of haemophilia A characterised by a small deficiency of factor VIII (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following surgery or tooth extraction. Spontaneous haemorrhages do not occur. Patients may be also labelled as having mild haemophilia A if they have a FVIII >40 IU/dL and a DNA change in the F8 gene and one of the following: (i) a family member with the same DNA change and FVIII of <40 IU/dL, and the DNA change is found in <1% of the population; and (ii) the international databases list the DNA change as being associated with haemophilia A and <40 IU/dL FVIII. The condition may affect males and female carriers of disease-causing mutations.	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hereditary platelet function disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Postinfective immunoglobulin A vasculitis (disorder)	Has interpretation	False	Abnormal	Inferred relationship	Some	3
Restricted receptive language development	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Mutational falsetto	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Blood coagulation disorder, categorised by value of screening test	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Flaccid dysphonia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Factor X deficiency	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Thrombocytopenic purpura due to defective platelet production (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	3
Homozygous protein S deficiency (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Disease that manifests either a quantitative or a qualitative defect of factor I	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Transient neonatal thrombocytopenia due to idiopathic maternal thrombocytopenia (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Thrombocytopenia due to non-immune destruction	Has interpretation	True	Abnormal	Inferred relationship	Some	2
A disintegrin and metalloproteinase with thrombospondin type 1 motif 13 deficiency (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Receptive language impairment	Has interpretation	False	Abnormal	Inferred relationship	Some	1
P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleeding, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Developmental language disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Gray platelet syndrome	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Purpura rheumatica	Has interpretation	False	Abnormal	Inferred relationship	Some	2
A rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendency of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation.	Has interpretation	True	Abnormal	Inferred relationship	Some	1
von Willebrand disease, type IIC	Has interpretation	False	Abnormal	Inferred relationship	Some	1
Lupus anticoagulant disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Thrombocytopenic purpura associated with metabolic disorder (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	3
Phoneme-grapheme conversion deficit	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Antithrombin III deficiency	Has interpretation	True	Abnormal	Inferred relationship	Some	1
White platelet syndrome (WPS) is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hereditary von Willebrand disease type 2M	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Dissociative neurological symptom disorder with muteness (disorder)	Has interpretation	False	Abnormal	Inferred relationship	Some	1
Restricted sound system	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Sociolinguistic disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Mixed dysphasia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Semantic-pragmatic disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hereditary heparin cofactor II deficiency (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Thromboxane generation defect	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Pigmented purpuric lichenoid dermatitis of Gougerot and Blum	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hereditary von Willebrand disease type 2B	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.	Has interpretation	False	Abnormal	Inferred relationship	Some	2
Amegakaryocytic thrombocytopenia with congenital malformation	Has interpretation	True	Abnormal	Inferred relationship	Some	3
Hereditary factor V deficiency disease	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Anti-factor II disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Anticoagulant excess without bleeding	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Elective mutism	Has interpretation	False	Abnormal	Inferred relationship	Some	1
von Willebrand disease type IA	Has interpretation	False	Abnormal	Inferred relationship	Some	1
Radial aplasia-thrombocytopenia syndrome	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Factor XIII deficiency disease	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Blood coagulation disorder due to liver disease	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Severe hereditary factor IX deficiency disease with inhibitor (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hemorrhagic disorder due to antithrombinemia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Alpha chain defect dysfibrinogenemia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Adductor spastic dysphonia of musculoskeletal tension reaction	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Familial multiple factor deficiency syndrome, type III	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Receptive language disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hyperkinetic aphonia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Dissociative neurological symptom disorder with aphonia (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Upshaw-Schulman syndrome (disorder)	Has interpretation	False	Abnormal	Inferred relationship	Some	8
purpura thrombopénique congénital	Has interpretation	False	Abnormal	Inferred relationship	Some	3
Hereditary von Willebrand disease type 1B	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Factor II deficiency	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Mild developmental articulation disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Ataxic dysphonia	Has interpretation	True	Abnormal	Inferred relationship	Some	1

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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