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 |
East Texas bleeding disorder is a rare, genetic, coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), 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 |
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 |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
A form of von Willebrand disease (VWD) characterised by a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF). |
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 |
Autoimmune thrombocytopenia in pregnancy |
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 |
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 |
syndrome d'Epstein |
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 |
dysphonie |
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 |
A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Developmental semantic impairment (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Developmental expressive language disorder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
von Willebrand disease, type IIB |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Dysfibrinogenemia |
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 |
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 |
Developmental language impairment |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
A bleeding disorder characterized by 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) characterised by 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. |
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 afibrinogenaemia with haemorrhage |
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 |
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 (disorder) |
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-Harbor 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 (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Giant platelet syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |