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
Ataxic dysphonia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Dissociative neurological symptom disorder with dysphonia (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Contact purpura (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Severe receptive language delay	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Homozygous protein C deficiency (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Speech and language disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Sex-linked thrombocytopenia	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Phonological disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	1
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	False	Abnormal	Inferred relationship	Some	8
Mild hereditary factor VIII deficiency disease without inhibitor (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Includes true von Willebrand disease with mutation at the VWF locus, as well as mimicking disorders with other mutations (pseudo VWD) and acquired von Willebrand syndrome.	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Megakaryocytic thrombocytopenia	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Purpura pigmentosa chronica	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Acute haemorrhagic oedema of childhood	Has interpretation	False	Abnormal	Inferred relationship	Some	3
Dysfluency	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Semantic-pragmatic impairment	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Clothing purpura (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
von Willebrand disease, type IIH	Has interpretation	False	Abnormal	Inferred relationship	Some	1
Legal abortion with afibrinogenemia	Has interpretation	False	Abnormal	Inferred relationship	Some	1
Childhood apraxia of speech (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
MYH9 macrothrombocytopenia syndrome	Has interpretation	False	Abnormal	Inferred relationship	Some	1
Secondary cutaneous vasculitis	Has interpretation	True	Abnormal	Inferred relationship	Some	3
Afibrinogenaemia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Heterozygous protein C deficiency (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Thrombocytopenic purpura due to platelet consumption (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	3
Severe hereditary factor IX deficiency disease without inhibitor (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Essential thrombocythemia (disorder)	Has interpretation	False	Abnormal	Inferred relationship	Some	2
Refractory thrombocytopenia (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	3
Hereditary hyperhomocysteinemia (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hereditary factor XIII B subunit deficiency (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hereditary coagulation factor deficiency	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Transient neonatal thrombocytopenia due to isoimmunisation	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Vitamin K deficiency coagulation disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Thrombophilia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Reactive thrombocytosis	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Homozygous Factor V Leiden mutation	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Neonatal thrombocytopenia due to idiopathic maternal thrombocytopenia	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Includes both quantitative and qualitative disorders of procoagulants	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hypernasality and hyponasality	Has interpretation	True	Abnormal	Inferred relationship	Some	1
High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with multiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal.	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Hermansky-Pudlak syndrome	Has interpretation	False	Abnormal	Inferred relationship	Some	3
Osteogenesis imperfecta type I (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.	Has interpretation	True	Abnormal	Inferred relationship	Some	3
Osteogenesis imperfecta type III (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Osteogenesis imperfecta, perinatal lethal	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta	Has interpretation	True	Abnormal	Inferred relationship	Some	4
Osteogenesis imperfecta type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some under-modeling of the femur. 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
Osteogenesis imperfecta	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Osteogenesis imperfecta, type IV B	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Osteogenesis imperfecta with normal sclerae, dominant form	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Osteoporosis with pseudoglioma	Has interpretation	True	Abnormal	Inferred relationship	Some	2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994.	Has interpretation	True	Abnormal	Inferred relationship	Some	4
Osteogenesis imperfecta, type IV A	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Osteogenesis imperfecta with blue sclerae AND normal teeth	Has interpretation	True	Abnormal	Inferred relationship	Some	3
Osteogenesis imperfecta, dominant perinatal lethal	Has interpretation	True	Abnormal	Inferred relationship	Some	2
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.	Has interpretation	True	Abnormal	Inferred relationship	Some	5
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	Has interpretation	True	Abnormal	Inferred relationship	Some	3
A rare neurologic disease characterized by excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia.	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Irregular tear film (finding)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Abnormal hair finding (finding)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Sexual dysfunction caused by amfetamine and/or amfetamine derivative (finding)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Acquired hemophilia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
A rare, genetic punctate palmoplantar keratoderma disease characterized by discrete, focal, punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983.	Has interpretation	True	Abnormal	Inferred relationship	Some	2
A rare, X-linked, syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated.	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Chronic instability of bilateral knee joints	Has interpretation	False	Abnormal	Inferred relationship	Some	2
Chronic instability of bilateral knee joints	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Adult onset fluency disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Aplastic anemia due to drugs	Has interpretation	True	Abnormal	Inferred relationship	Some	8
Acquired factor V deficiency disease	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Systemic lupus erythematosus-associated antiphospholipid syndrome (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	3
Perinatal purpura	Has interpretation	False	Abnormal	Inferred relationship	Some	3
Heparin-induced thrombocytopenia	Has interpretation	True	Abnormal	Inferred relationship	Some	3
A rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).	Has interpretation	True	Abnormal	Inferred relationship	Some	4
Congenital factor IX deficiency without inhibitor (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Neonatal thrombocytopenia	Has interpretation	True	Abnormal	Inferred relationship	Some	3
A rare, genetic coagulation disorder characterised by a mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and, occasionally, mild thrombocytopenia.	Has interpretation	True	Abnormal	Inferred relationship	Some	2
A rare hemorrhagic disorder due to a constitutional hemostatic factors defect characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Disorder of fluency	Has interpretation	False	Abnormal	Inferred relationship	Some	2
Protein-S-Mangel, erworbener	Has interpretation	False	Abnormal	Inferred relationship	Some	2
Thrombocytopenia due to hypersplenism	Has interpretation	False	Abnormal	Inferred relationship	Some	3
Speech and language deficit due to and following ischemic cerebrovascular accident (disorder)	Has interpretation	False	Abnormal	Inferred relationship	Some	3
Immune thrombocytopenia	Has interpretation	True	Abnormal	Inferred relationship	Some	4
Factor V inhibitor disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Acquired factor X deficiency disease	Has interpretation	True	Abnormal	Inferred relationship	Some	2
thrombophilie acquise d'origine médicamenteuse	Has interpretation	False	Abnormal	Inferred relationship	Some	2
Pancytopenia caused by medication (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Congenital auditory imperception	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Oligoovulatory dysfunctional uterine bleeding (finding)	Has interpretation	True	Abnormal	Inferred relationship	Some	4
Psychogenic stammering	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Hereditary dysfibrinogenemia (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Severe fever with thrombocytopenia syndrome (SFTS) is a newly emerging infectious disease.	Has interpretation	True	Abnormal	Inferred relationship	Some	6
Immunologic aplastic anemia	Has interpretation	True	Abnormal	Inferred relationship	Some	7
Vascular hemostatic disease	Has interpretation	True	Abnormal	Inferred relationship	Some	3
Childhood and adolescent disturbance with elective mutism	Has interpretation	False	Abnormal	Inferred relationship	Some	3
à l'examen : retard du langage	Has interpretation	False	Abnormal	Inferred relationship	Some	4
Thrombocytopenia with acquired immunodeficiency syndrome (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	3
Acquired coagulation factor inhibitor disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Platelet dysfunction caused by aspirin (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2

Start Previous Page 41 of 56 Next End

This concept is not in any reference sets

Back to Start

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