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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
Scenic visual hallucinations Has interpretation True Abnormal Inferred relationship Some 2
Dissociative visual hallucinations Has interpretation True Abnormal Inferred relationship Some 2
Formed hallucinations of people Has interpretation True Abnormal Inferred relationship Some 2
Formed hallucinations of animals Has interpretation True Abnormal Inferred relationship Some 2
Formed hallucinations of insects Has interpretation True Abnormal Inferred relationship Some 2
Formed hallucinations of objects Has interpretation True Abnormal Inferred relationship Some 2
Sexual dysfunction caused by drug (finding) Has interpretation True Abnormal Inferred relationship Some 2
Abnormal adrenocorticotropic hormone (finding) Has interpretation True Abnormal Inferred relationship Some 1
Ectopic ACTH secretion Has interpretation False Abnormal Inferred relationship Some 2
Paraneoplastic ectopic secretion of ACTH Has interpretation False Abnormal Inferred relationship Some 2
Esophageal dysmotility following bariatric surgery (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Ear examination abnormal Has interpretation True Abnormal Inferred relationship Some 2
Acquired prekallikrein deficiency (disorder) Has interpretation True Abnormal Inferred relationship Some 1
A rare genetic coagulation disorder characterised by the usually incidental laboratory finding of a prolonged activated partial thromboplastin time (aPTT) but normal prothrombin time, due to a deficiency of normal prekallikrein or the presence of nonfunctional prekallikrein. Most patients remain clinically asymptomatic, although an association with cardiovascular conditions (hypertension, myocardial infarction, other coronary artery diseases, and ischaemic strokes) and venous thrombosis, as well as rare cases with increased bleeding tendency have been reported. Has interpretation True Abnormal Inferred relationship Some 1
Congenital instability of bilateral hip joints (disorder) Has interpretation True Abnormal Inferred relationship Some 3
Instability of spinal joint due to and following traumatic injury (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Achalasia due to Chagas disease (disorder) Has interpretation True Abnormal Inferred relationship Some 4
Post-traumatic mutism Has interpretation True Abnormal Inferred relationship Some 6
Acquired dysphasia (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Traumatic rupture of posterior cruciate ligament of left knee joint (disorder) Has interpretation True Abnormal Inferred relationship Some 3
Right knee joint posterior cruciate ligament traumatic rupture Has interpretation True Abnormal Inferred relationship Some 3
A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. Has interpretation True Abnormal Inferred relationship Some 6
Extrinsic staining of teeth caused by drug Has interpretation True Abnormal Inferred relationship Some 2
Posteruptive teeth staining Has interpretation True Abnormal Inferred relationship Some 2
Teeth staining caused by metal (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Teeth staining due to pulpal bleeding Has interpretation True Abnormal Inferred relationship Some 2
Teeth staining caused by drugs (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Intrinsic staining of tooth caused by tetracycline Has interpretation True Abnormal Inferred relationship Some 2
Posteruptive tooth staining caused by tetracycline (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Abnormal nervous system function Has interpretation True Abnormal Inferred relationship Some 1
Foreign accent syndrome is a rare motor speech disorder characterized by a speech pattern that results in accent changes perceived as new and different to their native accent. The etiology is unclear but occurs most commonly following structural neurological damage e.g. cerebrovascular accident but has also been associated with a functional neurological etiology. Has interpretation True Abnormal Inferred relationship Some 1
Ectopic renin secretion Has interpretation True Abnormal Inferred relationship Some 3
Tobacco deposit on teeth Has interpretation True Abnormal Inferred relationship Some 2
A rare genetic disease characterised by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency. Has interpretation True Abnormal Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies, and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy, or white matter changes. Has interpretation True Abnormal Inferred relationship Some 3
A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils. Has interpretation True Abnormal Inferred relationship Some 1
Betel deposit on teeth Has interpretation True Abnormal Inferred relationship Some 2
A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcer. Mildly reduced levels of coagulation factor XI have been reported in addition. Has interpretation True Abnormal Inferred relationship Some 1
Antepartum hemorrhage with afibrinogenemia Has interpretation True Abnormal Inferred relationship Some 2
Hyperfibrinolysis Has interpretation True Abnormal Inferred relationship Some 2
Antepartum hemorrhage with coagulation defect (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Antepartum haemorrhage with hyperfibrinolysis Has interpretation True Abnormal Inferred relationship Some 3
Antepartum hemorrhage with coagulation defect - delivered Has interpretation False Abnormal Inferred relationship Some 2
Antepartum hemorrhage with coagulation defect - not delivered Has interpretation False Abnormal Inferred relationship Some 1
Antepartum hemorrhage with hypofibrinogenemia Has interpretation True Abnormal Inferred relationship Some 2
Antepartum hemorrhage with disseminated intravascular coagulation (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Density outside reference range (finding) Has interpretation False Abnormal Inferred relationship Some 1
Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis. Has interpretation True Abnormal Inferred relationship Some 4
Maternal perinatal purpura (disorder) Has interpretation True Abnormal Inferred relationship Some 2
Fetal purpura (disorder) Has interpretation True Abnormal Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, developmental delay, macrocephaly, speech delay, and hypotonia. Dysmorphic facial features include a high, broad, and/or prominent forehead, laterally sparse eyebrows, widely spaced and deeply-set eyes, narrow palpebral fissures, low-set ears, full/prominent cheeks, midface hypoplasia, thin upper lip, and a pointed chin. Additional variable manifestations include joint laxity, abnormality of vision (including hypermetropia, strabismus, and cerebral visual impairment), genital abnormalities in males, and inguinal, umbilical, or hiatal hernia. Has interpretation True Abnormal Inferred relationship Some 2
Perinatal disorder of skin and temperature regulation (disorder) Has interpretation True Abnormal Inferred relationship Some 2
ARIA - amyloid-related imaging abnormality Has interpretation True Abnormal Inferred relationship Some 1
ARIA-E - amyloid-related image abnormality of edema or effusion Has interpretation True Abnormal Inferred relationship Some 1
ARIA-H - amyloid-related image abnormality of microhemorrhage or haemosiderosis Has interpretation True Abnormal Inferred relationship Some 1
Abnormal heart to thorax ratio of fetus (finding) Has interpretation True Abnormal Inferred relationship Some 2
Amphetamine-induced sexual dysfunction Has interpretation True Abnormal Inferred relationship Some 1
A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others. Has interpretation True Abnormal Inferred relationship Some 2
Opioid-induced sexual dysfunction Has interpretation True Abnormal Inferred relationship Some 1
A rare isolated hereditary giant platelet disorder characterised by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous haematoma, and menorrhagia. Has interpretation True Abnormal Inferred relationship Some 1
A rare systemic disease characterized by acute or subacute onset of thrombocytopenia, anasarca (edema, pleural effusion, ascites), and systemic inflammation (fever and/or elevated C-reactive protein). Minor diagnostic categories are Castleman's disease-like features on lymph node biopsy, reticulin myelofibrosis and/or increased number of megakaryocytes in bone marrow, progressive renal insufficiency, and mild organomegaly including hepatosplenomegaly and lymphadenopathy. Most patients show elevated levels of serum alkaline phosphatase, while marked polyclonal hypergammopathy is rare. Has interpretation True Abnormal Inferred relationship Some 1
Acquired antithrombin III deficiency Has interpretation True Abnormal Inferred relationship Some 3
Osteogenesis imperfecta type IIC presents with varying thickness of the ribs, discontinuous beading of the ribs, malformed scapula and ischia, and long bones with thin shafts and expanded metaphyses. Type IIC is extremely rare. Appearances have been reported in fetuses with mutations in the MESD gene (15q25). The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism. Has interpretation True Abnormal Inferred relationship Some 2
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995. Has interpretation True Abnormal Inferred relationship Some 3
Premature separation of placenta with coagulation defect Has interpretation True Abnormal Inferred relationship Some 3
A rare genetic coagulation disorder characterized by marked bleeding tendency and posttraumatic bleeding with easy bruising, soft tissue and muscle bleeding, hemarthroses, and menorrhagia due to an increase of soluble thrombomodulin in plasma with subsequent protein C activation and reduction of thrombin generation within a potential thrombus. Abnormal laboratory findings include markedly elevated plasma thrombomodulin, reduced prothrombin consumption, and decreased thrombin generation. Has interpretation True Abnormal Inferred relationship Some 1
Dysmotility of small intestine caused by drug Has interpretation True Abnormal Inferred relationship Some 2
Dysmotility of small intestine due to systemic disease Has interpretation True Abnormal Inferred relationship Some 2
Discoloration of kidney Has interpretation True Abnormal Inferred relationship Some 2
Perceptual disturbances co-occurrent and due to hypnotic withdrawal (disorder) Has interpretation False Abnormal Inferred relationship Some 2
Perceptual disturbances and seizures co-occurrent and due to hypnotic withdrawal (disorder) Has interpretation False Abnormal Inferred relationship Some 2
Brugada electrocardiograph pattern Has interpretation True Abnormal Inferred relationship Some 1
A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections. Has interpretation True Abnormal Inferred relationship Some 2
A rare lymphatic system anomaly characterized by multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract, and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically, the lesions appear as round to oval, red-brown plaques, as large as a few centimeters in diameter. Histopathologically, they consist of dilated, thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers, and resembling benign lymphangioendothelioma. Has interpretation True Abnormal Inferred relationship Some 2
Spontaneous Brugada electrocardiograph pattern (finding) Has interpretation True Abnormal Inferred relationship Some 2
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported. Has interpretation True Abnormal Inferred relationship Some 3
Ultrasonography of lung abnormal (finding) Has interpretation True Abnormal Inferred relationship Some 1
Pale face Has interpretation False Abnormal Inferred relationship Some 1
Discoloration of liver Has interpretation True Abnormal Inferred relationship Some 2
Provoked Brugada electrocardiograph pattern Has interpretation True Abnormal Inferred relationship Some 2
Behavioral disturbance due to multi-infarct dementia Has interpretation True Abnormal Inferred relationship Some 4
Instability of joint of bilateral wrist regions (finding) Has interpretation True Abnormal Inferred relationship Some 1
Instability of joint of bilateral hands (finding) Has interpretation True Abnormal Inferred relationship Some 1
Instability of joint of bilateral elbows (finding) Has interpretation True Abnormal Inferred relationship Some 1
Instability of joint of sacrococcygeal region (finding) Has interpretation True Abnormal Inferred relationship Some 1
Abnormal rapid eye movement sleep Has interpretation True Abnormal Inferred relationship Some 1
Selective immunoglobulin dysfunction Has interpretation True Abnormal Inferred relationship Some 2
Hyperimmunoglobulin D with periodic fever Has interpretation False Abnormal Inferred relationship Some 2
Acquired protein S deficiency Has interpretation True Abnormal Inferred relationship Some 1
Acquired protein C deficiency (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Acquired heparin cofactor II deficiency (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Abnormal fetal heart beat first noted during labor AND/OR delivery in liveborn infant Has interpretation True Abnormal Inferred relationship Some 2
Intrapartum hemorrhage with coagulation defect Has interpretation True Abnormal Inferred relationship Some 3
Parturient hemorrhage associated with hypofibrinogenemia Has interpretation True Abnormal Inferred relationship Some 3
Regular wide QRS complex tachycardia Has interpretation True Abnormal Inferred relationship Some 3
Abnormal amniotic fluid Has interpretation True Abnormal Inferred relationship Some 1
Disorder of amniotic fluid turnover Has interpretation True Abnormal Inferred relationship Some 1
Purulent amniotic fluid (finding) Has interpretation True Abnormal Inferred relationship Some 1
Pigmented purpuric dermatosis (disorder) Has interpretation True Abnormal Inferred relationship Some 5
Lichen aureus Has interpretation True Abnormal Inferred relationship Some 6
Progressive pigmentary dermatosis of Schamberg Has interpretation True Abnormal Inferred relationship Some 6

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