263654008: Abnormal (qualifier value)

SNOMED CT Concept\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:

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

2240221000005113 Abnorm da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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
Malignancy-related factor VIII deficiency	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Heparin cofactor II deficiency	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Receptive language delay	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Moderate hereditary factor IX deficiency disease with inhibitor (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Blood coagulation disorder with prolonged coagulation time	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Beta chain defect dysfibrinogenaemia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
A rare genetic coagulation disorder characterised by easy bruising (without haemarthrosis or spontaneous haematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors and normal protein C activity.	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Disseminated intravascular coagulation	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Moderate receptive language delay	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hypofunctional aphonia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Disorder of hemostatic system	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Primary progressive apraxia of speech (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Purpuric rash	Has interpretation	False	Abnormal	Inferred relationship	Some	3
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	False	Abnormal	Inferred relationship	Some	3
Contact factor deficiency (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Idiopathic adductor spastic dysphonia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Factor V deficiency	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Dysprosody of 'pseudoforeign dialect'	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Phonological programming deficit	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Disorder involving the fibrinolytic system (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
A form of von Willebrand disease (VWD) with characteristics of a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF). The type 1 disease is considered to be the most common form of VWD, caused by mutations in the VWF gene (12p13.3). Transmitted in an autosomal dominant manner.	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Developmental language disorder co-occurrent with language impairment (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Idiopathic maternal thrombocytopenia (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Thrombophilia due to vascular anomaly	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Developmental dysfluency	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Mixed flaccid-spastic pseudobulbar dysphonia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Voice disorder due to iatrogenic factor	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Adductor spastic dysphonia of dystonia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Alloimmune platelet transfusion refractoriness	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Non-organic communication disorder in remission	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Acquired receptive language impairment (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Benign gestational thrombocytopenia (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Delayed pre-verbal development	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Moderate hereditary factor IX deficiency disease without inhibitor (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hereditary factor XIII A subunit and B subunit deficiency (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Choreic dysphonia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Mechanical purpura	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Hereditary protein C deficiency (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hereditary thrombophilic dysfibrinogenemia (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Post-splenectomy thrombocytosis	Has interpretation	False	Abnormal	Inferred relationship	Some	2
Neurologic adductor spastic dysphonia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hereditary factor VIII deficiency disease without inhibitor (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Heterozygous Factor V Leiden mutation	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Mediterranean macrothrombocytopenia	Has interpretation	False	Abnormal	Inferred relationship	Some	2
Prothrombin G20210A mutation (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Language disorder of dementia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Epsteins syndrom	Has interpretation	False	Abnormal	Inferred relationship	Some	4
Fibrinogen deficiency	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Moderate expressive language delay	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Receptive dysphasia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Thrombocytopenia due to blood loss	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Factor IX deficiency (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
besvær med at tale	Has interpretation	False	Abnormal	Inferred relationship	Some	1
Frontal dynamic dysphasia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Psychogenic aphonia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hereditary thrombocytopenia with normal platelets	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Developmental semantic impairment	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Developmental expressive language disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	1
von Willebrands sygdom type IIB	Has interpretation	False	Abnormal	Inferred relationship	Some	1
Dysfibrinogenemia (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hereditary von Willebrand disease type 2A	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Mild hereditary factor IX deficiency disease with inhibitor (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hemorrhagic disorder due to increase in anti-8a (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Platelet disorder (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Ventricular dysphonia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Gamma chain defect dysfibrinogenemia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hyperfunctional aphonia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
udviklingsmæssig sproghæmning	Has interpretation	False	Abnormal	Inferred relationship	Some	1
A bleeding disorder with characteristics of mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia.	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Non-organic communication disorder (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Passovoy factor deficiency	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Adductor spastic dysphonia of organic voice tremor	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Neurogenic stammering	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Speech delay	Has interpretation	True	Abnormal	Inferred relationship	Some	1
A form of von Willebrand disease (VWD) with characteristics of a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N. The VWF gene (12p13.3) anomalies that lead to type 2 VWD involve the well-defined functional domains of the VWF protein. Most subtypes of type 2 VWD are transmitted in an autosomal dominant manner except for type 2N and some rare forms of type 2A which are autosomal recessive.	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hypoplasminogenemia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Developmental language disorder and impairment of receptive and expressive language	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Purpura due to prolonged vomiting and/or coughing (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Oral-verbal dyspraxia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Postpartum afibrinogenemia with hemorrhage	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Mild hereditary factor IX deficiency disease without inhibitor (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Hypokinetic parkinsonian dysphonia (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Familial multiple factor deficiency syndrome, type VI	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Moderate hereditary factor VIII deficiency disease without inhibitor (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Itching purpura	Has interpretation	True	Abnormal	Inferred relationship	Some	3
Kasabach-Merritt syndrome	Has interpretation	True	Abnormal	Inferred relationship	Some	3
Protein S deficiency disease	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Thrombocytopenic disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Hyperfibrinogenemia (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Post infectious thrombocytopenic purpura	Has interpretation	True	Abnormal	Inferred relationship	Some	3
Thrombocytopenia due to extracorporeal circulation (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Primary non-thrombocytopenic purpura	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Blood coagulation disorder with shortened bleeding time	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Floating-Harbour syndrome	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Montreal platelet syndrome (disorder)	Has interpretation	False	Abnormal	Inferred relationship	Some	2
Deficiency of naturally occurring coagulation factor inhibitor	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Giant platelet syndrome	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
2240221000005113	Abnorm	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)