Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Cervical smear - severe inflammation |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Chronic hyperglycaemia |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Autosomal recessiv svær kombineret immundefekt |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
X-bundet svær kombineret immundefekt |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
A genetic epilepsy of childhood with characteristics of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Seizures can regress in adulthood but most patients have ongoing seizures that are refractory to medication. Around 85% of cases are due to a mutation or deletion in the SCN1A gene (2q24.3), encoding a voltage-gated sodium channel essential for the excitability of neurons. In families with a known SCN1A mutation, inheritance is autosomal dominant. |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Fulminant fat embolism syndrome |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe combined immunodeficiency with maternofetal engraftment |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Warts, hypogammaglobulinaemia, infections, and myelokathexis |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Benign combined immunodeficiency |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Fulminant amoebic colitis |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Abscess of colon co-occurrent and due to diverticular disease of colon (disorder) |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Lille muskelhypertrofi i colon sigmoideum |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Fulminant hepatic failure |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Acute rejection of renal transplant - grade III |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Chronic rejection of renal transplant - grade III |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe postnatal depression |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe postnatal psychosis |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe hyperglycemia due to diabetes mellitus (disorder) |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Poor glycaemic control |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Acute hyperglycemia |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Recurrent severe hypoglycemia |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Morbid obesity |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe systemic illness tissue wasting |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe systemic illness-induced skeletal muscle wasting |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe systemic illness-induced intestinal villous atrophy |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe systemic illness-induced cutaneous atrophy |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Alvorlig autosomal recessiv muskeldystrofi i barnealderen nordafrikansk type |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe scapuloperoneal muscular dystrophy with cardiomyopathy |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe systemic illness respiratory muscle fatigue |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Diverticulitis of colon |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Reticular dysgenesis (disorder) |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
SCID due to absent IL-2 receptor |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Craniometaphyseal dysplasia - severe type (disorder) |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Oculodento-osseous dysplasia - severe type |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe ichthyoses |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Cervical smear - severe dyskaryosis |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Complicated diverticular disease of large intestine (disorder) |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe systemic illness-induced respiratory muscle wasting (disorder) |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe transient tachypnea of newborn |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Vulval intraepithelial neoplasia grade 3 |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe childhood autosomal recessive muscular dystrophy |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe idiopathic hypercalcemia of infancy (disorder) |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Perforated diverticulum of large intestine |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severely educationally subnormal |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Massive gastrointestinal bleed |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Svær ventrikeldysplasi |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe oesophageal dysplasia |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe biliary tract dysplasia |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe pancreatic duct dysplasia |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe dysplasia of colon |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe dysplasia of rectum |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe nonproliferative retinopathy due to diabetes mellitus (disorder) |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Reticular dysgenesis with congenital aleucocytosis |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe combined immunodeficiency due to absent lymphoid stem cells (disorder) |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe adrenal insufficiency |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
lymfopenisk agammaglobulinæmi kombineret med dværgvækstsyndrom med korte ekstremiteter |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
A very rare disorder which is probably hereditary. It is not caused by a disorder of disaccharidease activity or by impairment of monosaccharide transport but rather by abnormal permeability of lactose through the gastric mucosa. |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Profound intellectual disability (disorder) |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe combined immunodeficiency disease |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder) |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Sialic acid storage disease, severe infantile type |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Waterhouse-Friderichsen syndrome |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe combined immunodeficiency due to absent adenosine deaminase (disorder) |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe intellectual disability (disorder) |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Persistent hyperphenylalaninemia AND tyrosinemia |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Persistent hyperphenylalaninemia |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Adenosine deaminase deficiency (disorder) |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Diverticulitis of large intestine |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe combined immunodeficiency due to absent interleukin-2 production (disorder) |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Acne fulminans |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe X-linked myotubular myopathy (disorder) |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe sinus bradycardia (disorder) |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe combined immunodeficiency due to absent T cell receptor (disorder) |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Classical maple syrup urine disease |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Nezelof's syndrome |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe birth asphyxia |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
astma med status asthmaticus |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Intrinsik astma med status asthmaticus |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Mannosidosis, type I |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Mucopolysaccharidosis, MPS-I-H |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
SCID forårsaget af manglende klasse II HLA-antigener |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Hunter's syndrome, severe form |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Classical phenylketonuria |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Diverticulitis of colon with perforation |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Pickwickian syndrome |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Ehlers-Danlos' syndrom, type 1 |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Congenital neutropenia |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Ekstrinsisk astma med status asthmaticus |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Disability - severe |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Symptom severe |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severely abnormal behaviour |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Recurrent severe hypos |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Extreme obesity with alveolar hypoventilation |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe combined immunodeficiency with reticular dysgenesis (disorder) |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe combined immunodeficiency with low T- and B-cell numbers |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Severe combined immunodeficiency with low or normal B-cell numbers |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
major histokompatibilitetskompleksmangel, klasse I |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
A rare autosomal recessive primary immunodeficiency characterized by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood. |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
enkelt manisk episode, svær, uden angivelse af psykose |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
Single manic episode, severe, with psychosis |
Severity |
False |
Severe |
Inferred relationship |
Some |
|
tilbagevendende maniske episoder, svære, uden angivelse af psykose |
Severity |
False |
Severe |
Inferred relationship |
Some |
|