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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
Hermansky-Pudlak syndrome Has interpretation True Abnormal Inferred relationship Some 3
Platelet dense granule deficiency Has interpretation True Abnormal Inferred relationship Some 2
Autoimmune pancytopenia Has interpretation True Abnormal Inferred relationship Some 5
Chédiak-Higashi syndrome Has interpretation True Abnormal Inferred relationship Some 3
Scott syndrome Has interpretation True Abnormal Inferred relationship Some 2
Platelet storage pool defect Has interpretation True Abnormal Inferred relationship Some 3
Familial alpha>2< adrenergic receptor defect in platelets Has interpretation True Abnormal Inferred relationship Some 2
Isolated collagen aggregation defect Has interpretation True Abnormal Inferred relationship Some 2
Acquired red cell aplasia Has interpretation False Abnormal Inferred relationship Some 6
May-Hegglin anomaly Has interpretation False Abnormal Inferred relationship Some 3
syndrome d'Epstein Has interpretation False Abnormal Inferred relationship Some 4
Montreal platelet syndrome (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Post-splenectomy thrombocytosis Has interpretation True Abnormal Inferred relationship Some 2
Pancytopenia-dysmelia Has interpretation False Abnormal Inferred relationship Some 5
Essential thrombocythemia (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Megakaryocytic aplasia Has interpretation True Abnormal Inferred relationship Some 2
Thrombocytopenia due to hypersplenism Has interpretation True Abnormal Inferred relationship Some 3
Perinatal thrombocytopenia Has interpretation True Abnormal Inferred relationship Some 3
Platelet dysfunction associated with uremia (disorder) Has interpretation True Abnormal Inferred relationship Some 3
Aplastic anemia due to infection Has interpretation True Abnormal Inferred relationship Some 8
Hereditary thrombocytopenic disorder (disorder) Has interpretation True Abnormal Inferred relationship Some 3
Autoimmune neonatal thrombocytopenia Has interpretation True Abnormal Inferred relationship Some 3
Aplastic anemia associated with pregnancy (disorder) Has interpretation True Abnormal Inferred relationship Some 6
Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding. Has interpretation True Abnormal Inferred relationship Some 2
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. Has interpretation True Abnormal Inferred relationship Some 7
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia. Has interpretation True Abnormal Inferred relationship Some 2
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. Has interpretation True Abnormal Inferred relationship Some 3
A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets. Has interpretation True Abnormal Inferred relationship Some 3
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 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 True Abnormal Inferred relationship Some 7
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. Has interpretation True Abnormal Inferred relationship Some 9
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 True Abnormal Inferred relationship Some 2
A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978. Has interpretation True Abnormal Inferred relationship Some 2
Congenital thrombocytopenia (disorder) Has interpretation True Abnormal Inferred relationship Some 3
Acquired platelet disorder Has interpretation True Abnormal Inferred relationship Some 2
Acquired storage pool deficiency (platelets) Has interpretation True Abnormal Inferred relationship Some 3
Constitutional aplastic anemia Has interpretation True Abnormal Inferred relationship Some 7
Chronic acquired pure red cell aplasia Has interpretation False Abnormal Inferred relationship Some 6
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 True Abnormal Inferred relationship Some 2
Periodontitis co-occurrent with Chédiak-Higashi syndrome Has interpretation False Abnormal Inferred relationship Some 3
Thrombocytopathy, asplenia and miosis (disorder) Has interpretation True Abnormal Inferred relationship Some 3
Aplastic anemia caused by antineoplastic agent Has interpretation True Abnormal Inferred relationship Some 7
A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells. Has interpretation True Abnormal Inferred relationship Some 6
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 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 True Abnormal Inferred relationship Some 6
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 True Abnormal Inferred relationship Some 4
Hypotrichosis with keratosis pilaris and lentiginosis Has interpretation True Abnormal Inferred relationship Some 3
Disturbance of temperature regulation of newborn Has interpretation True Abnormal Inferred relationship Some 2
Hypothermia of newborn Has interpretation True Abnormal Inferred relationship Some 3
Newborn environmental hypothermia Has interpretation False Abnormal Inferred relationship Some 3
Acute ST segment elevation myocardial infarction due to proximal left anterior descending coronary artery occlusion Has interpretation True Abnormal Inferred relationship Some 1
Acute ST segment elevation myocardial infarction due to mid left anterior descending coronary artery occlusion Has interpretation True Abnormal Inferred relationship Some 1
Acute ST segment elevation myocardial infarction due to distal left anterior descending coronary artery occlusion Has interpretation True Abnormal Inferred relationship Some 1
Congenital instability of spine Has interpretation True Abnormal Inferred relationship Some 2
Subsequent ST segment elevation myocardial infarction of inferior wall (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Subsequent ST segment elevation myocardial infarction of anterior wall Has interpretation True Abnormal Inferred relationship Some 2
Subsequent ST segment elevation myocardial infarction (disorder) Has interpretation True Abnormal Inferred relationship Some 3
Acute ST segment elevation myocardial infarction due to occlusion of anterior descending branch of left coronary artery Has interpretation True Abnormal Inferred relationship Some 2
Acute ST segment elevation myocardial infarction of inferoposterior wall (disorder) Has interpretation True Abnormal Inferred relationship Some 5
Acute ST segment elevation myocardial infarction due to occlusion of septal branch of anterior descending branch of left coronary artery (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Acute ST segment elevation myocardial infarction due to occlusion of diagonal branch of anterior descending branch of left coronary artery (disorder) Has interpretation True Abnormal Inferred relationship Some 4
Xeroderma of left eyelid Has interpretation False Abnormal Inferred relationship Some 4
Xeroderma of right eyelid (disorder) Has interpretation False Abnormal Inferred relationship Some 4
Xeroderma of right upper eyelid Has interpretation False Abnormal Inferred relationship Some 3
Xeroderma of left upper eyelid Has interpretation False Abnormal Inferred relationship Some 3
Iatrogenic instability of spine Has interpretation True Abnormal Inferred relationship Some 1
Nitritoid reaction (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Thrombocytopenia due to COVID-19 Has interpretation True Abnormal Inferred relationship Some 4
Saliva discoloration Has interpretation True Abnormal Inferred relationship Some 1
Tongue discoloration Has interpretation True Abnormal Inferred relationship Some 1
Acute ST segment elevation myocardial infarction due to occlusion of proximal portion of right coronary artery (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Acute ST segment elevation myocardial infarction due to occlusion of distal portion of right coronary artery (disorder) Has interpretation True Abnormal Inferred relationship Some 5
Acute ST segment elevation myocardial infarction due to occlusion of mid portion of right coronary artery (disorder) Has interpretation True Abnormal Inferred relationship Some 5
Acute ST segment elevation myocardial infarction due to occlusion of marginal branch of right coronary artery Has interpretation True Abnormal Inferred relationship Some 5
Acute ST segment elevation myocardial infarction due to occlusion of posterior lateral branch of right coronary artery (disorder) Has interpretation True Abnormal Inferred relationship Some 5
Acute ST segment elevation myocardial infarction due to occlusion of posterior descending branch of right coronary artery Has interpretation True Abnormal Inferred relationship Some 5
Instability of spine due to infectious disorder (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Instability of spine due to degeneration of spine (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Pervasive developmental disorder with marked impairment of functional language without loss of previously acquired skills (disorder) Has interpretation True Abnormal Inferred relationship Some 3
Pervasive developmental disorder with impairment of functional language (disorder) Has interpretation True Abnormal Inferred relationship Some 3
Pervasive developmental disorder with marked impairment of functional language with loss of previously acquired skills (disorder) Has interpretation True Abnormal Inferred relationship Some 3
Pervasive developmental disorder with disorder of intellectual development and pervasive impairment of functional language without loss of previously acquired skills (disorder) Has interpretation True Abnormal Inferred relationship Some 4
Pervasive developmental disorder with disorder of intellectual development and marked impairment of functional language with loss of previously acquired skills Has interpretation True Abnormal Inferred relationship Some 4
Pervasive developmental disorder with disorder of intellectual development and marked impairment of functional language without loss of previously acquired skills Has interpretation True Abnormal Inferred relationship Some 4
Pervasive developmental disorder with disorder of intellectual development and complete impairment of functional language without loss of previously acquired skills (disorder) Has interpretation True Abnormal Inferred relationship Some 4
Pervasive developmental disorder with disorder of intellectual development and absence of functional language with loss of previously acquired skills (disorder) Has interpretation True Abnormal Inferred relationship Some 4
Pervasive developmental disorder with disorder of intellectual development and complete impairment of functional language with loss of previously acquired skills Has interpretation True Abnormal Inferred relationship Some 4
Pervasive developmental disorder with severe impairment of functional language with loss of previously acquired skills (disorder) Has interpretation True Abnormal Inferred relationship Some 3
Pervasive developmental disorder with severe impairment of functional language without loss of previously acquired skills (disorder) Has interpretation True Abnormal Inferred relationship Some 3
Pervasive developmental disorder with abscence of functional language (disorder) Has interpretation True Abnormal Inferred relationship Some 3
Pervasive developmental disorder with complete impairment of functional language with loss of previously acquired skills Has interpretation True Abnormal Inferred relationship Some 3
Pervasive developmental disorder with complete impairment of functional language without loss of previously acquired skills (disorder) Has interpretation True Abnormal Inferred relationship Some 3
Pervasive developmental disorder with complete impairment of functional language (disorder) Has interpretation True Abnormal Inferred relationship Some 3
Pervasive developmental disorder with cognitive developmental delay and complete impairment of functional language (disorder) Has interpretation True Abnormal Inferred relationship Some 4
Pervasive developmental disorder with cognitive developmental delay and marked impairment of functional language (disorder) Has interpretation True Abnormal Inferred relationship Some 4
Familial pigmented purpuric eruption Has interpretation True Abnormal Inferred relationship Some 5
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3). Has interpretation True Abnormal Inferred relationship Some 1
Leukocoria of left eye Has interpretation True Abnormal Inferred relationship Some 1
Leukocoria of right eye Has interpretation True Abnormal Inferred relationship Some 1
Leukocoria Has interpretation True Abnormal Inferred relationship Some 1
Harlequin fetus Has interpretation True Abnormal Inferred relationship Some 4

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