Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Acquired angio-oedema due to the presence of neutralising antibodies against C1 inhibitor. |
Occurrence |
False |
Adulthood |
Inferred relationship |
Some |
1 |
A rare non-histaminic angioedema characterised by potentially life-threatening episodes of oedema of subcutaneous and/or mucosal tissues without urticaria, caused by excessive consumption of C1 esterase inhibitor (C1-INH) in the context of lymphoproliferative or autoimmune diseases. Patients typically present in the fourth decade of life or later and without a family history of angioedema. Clinical manifestation includes nonpitting oedema of the skin predominantly involving the face, but also the limbs or genitals, as well as abdominal pain due to involvement of the gastrointestinal mucosa and severe oedema of the upper airway and oral mucosa. Laboratory examination shows low C1-INH activity and low C3, C4, and C1q levels. Autoantibodies to C1-INH are frequently detectable. |
Occurrence |
False |
Adulthood |
Inferred relationship |
Some |
2 |
Adult Fanconi syndrome |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Acquired megacolon in adults |
Occurrence |
False |
Adulthood |
Inferred relationship |
Some |
1 |
Acquired megacolon in adults |
Occurrence |
False |
Adulthood |
Inferred relationship |
Some |
2 |
Epidermolysis bullosa acquisita, classical acral type (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa acquisita, bullous pemphigoid-like (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa acquisita, cicatricial pemphigoid-like (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa acquisita, Brunsting-Perry type (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Acquired epidermolysis bullosa |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa acquisita, oral mucosal involvement (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Drug-induced epidermolysis bullosa acquisita (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes. |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Adult hydrocele |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
A rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases. |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Distal muscular dystrophy, Miyoshi type |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles. |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Distal myopathy with early respiratory muscle involvement |
Occurrence |
False |
Adulthood |
Inferred relationship |
Some |
1 |
Distal myopathy 2 |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Tibial muscular dystrophy |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors. |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common. |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. |
Occurrence |
False |
Adulthood |
Inferred relationship |
Some |
2 |
Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Sexual abuse of adult (event) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Neglect of elder (event) |
Occurrence |
False |
Adulthood |
Inferred relationship |
Some |
1 |
Non-domestic physical abuse of adult (event) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Psychological abuse of adult |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Adult abuse (event) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Adult victim of abuse (finding) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Physical abuse of elderly person |
Occurrence |
False |
Adulthood |
Inferred relationship |
Some |
1 |
Emotional abuse of elderly person (event) |
Occurrence |
False |
Adulthood |
Inferred relationship |
Some |
1 |
Deprivation of nourishment of elderly person |
Occurrence |
False |
Adulthood |
Inferred relationship |
Some |
1 |
Abandonment of elderly person |
Occurrence |
False |
Adulthood |
Inferred relationship |
Some |
1 |
Emotional abuse of adult |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Elderly person maltreatment |
Occurrence |
False |
Adulthood |
Inferred relationship |
Some |
1 |
Domestic sexual abuse of adult (event) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Physical abuse of adult |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Domestic abuse of adult |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Victim of elder abuse |
Occurrence |
False |
Adulthood |
Inferred relationship |
Some |
1 |
Psychologically abused elder |
Occurrence |
False |
Adulthood |
Inferred relationship |
Some |
2 |
A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present. |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Adult atopic dermatitis recurrent in adult life (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated. |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
2 |
Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated. |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Adult onset Still's disease |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Adult onset autosomal recessive muscular dystrophy with normal dystrophin (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
A rare, genetic, motor neuron disease characterized by slowly progressive, predominantly proximal, muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor, and elevated serum creatine kinase at onset and later associates with reduced walking ability and impaired vibration sensation. |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior polar cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes. |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
A rare, genetic, motor neuron disease characterized by adulthood-onset of slowly progressive, proximal muscular weakness with fasciculations, amyotrophy, cramps, and absent/hypoactive reflexes, without bulbar or pyramidal involvement. |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
A rare acquired immunodeficiency disorder characterised by the appearance of susceptibility to disseminated opportunistic infections (in particular, disseminated nontuberculous mycobacterial infection, salmonellosis, penicillosis, and varicella zoster virus infection) in previously healthy (HIV-negative) adults, associated with the presence of acquired autoantibodies to interferon gamma. Typical clinical manifestation includes lymphadenopathy (cervical or generalised), fever, weight loss and/or reactive skin lesions. |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Adult atopic dermatitis persistent from childhood (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
2 |
Adult atopic dermatitis commencing in adult life (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
2 |
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement. |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement. |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
2 |
Adult osteochondritis of spine |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Adult osteochondritis of spine |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
2 |
Adult bronchiectasis |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Malignant optic glioma of adulthood |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Cutaneous mastocytosis, adult form (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Generalized adult periodontitis |
Occurrence |
False |
Adulthood |
Inferred relationship |
Some |
1 |
Adult periodontitis |
Occurrence |
False |
Adulthood |
Inferred relationship |
Some |
1 |
Localized adult periodontitis |
Occurrence |
False |
Adulthood |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa acquisita, classical acral type (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
2 |
Epidermolysis bullosa acquisita, bullous pemphigoid-like (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
2 |
Epidermolysis bullosa acquisita, cicatricial pemphigoid-like (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
2 |
Epidermolysis bullosa acquisita, Brunsting-Perry type (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
2 |
Acquired epidermolysis bullosa |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
2 |
Epidermolysis bullosa acquisita, oral mucosal involvement (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
2 |
Drug-induced epidermolysis bullosa acquisita (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
2 |
Adult atopic dermatitis (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
3 |
A rare, acquired immunodeficiency disease characterized by adult-onset absolute neutrophil counts less than 1.5 x 10^9/L on at least 3 occasions in a 3 month period that cannot be attributable to drugs or a specific genetic, infectious, inflammatory, autoimmune or malignant cause. Recurrent apthous stomatitis and a history of mild bacterial infections are typically associated. A benign outcome with a low rate of severe infections and no secondary malignancies is observed. |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
2 |
Adult onset fluency disorder |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
2 |
Type IV adult Pelizaeus-Merzbacher disease |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Type IV adult Pelizaeus-Merzbacher disease |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
2 |
A rare, genetic, macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region. |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Adult linear immunoglobulin A disease |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Metachromatic leucodystrophy, adult type |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
2 |
Metachromatic leucodystrophy, adult type |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Globoid cell leukodystrophy, late-onset |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Globoid cell leukodystrophy, late-onset |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
2 |
Inclusion conjunctivitis of the adult |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Adult onset autosomal dominant leukodystrophy (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
2 |
Adult onset autosomal dominant leukodystrophy (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Adult retinoschisis (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Adult form of celiac disease |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Adult hypertrophic pyloric stenosis |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Adult acute epiglottitis and supraglottitis |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Adult onset dermatomyositis (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Adult onset dermatomyositis (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
2 |
Adult myxoedema |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Hepatitis A virus antigen only adult vaccine product |
This attribute represents a characteristic that is applicable to a product. |
False |
Adulthood |
Inferred relationship |
Some |
|
Adult vaccine product containing only acellular Bordetella pertussis and Clostridium tetani toxoid and Corynebacterium diphtheriae toxoid antigens (medicinal product) |
This attribute represents a characteristic that is applicable to a product. |
False |
Adulthood |
Inferred relationship |
Some |
|
Adult vaccine product containing only Clostridium tetani and Corynebacterium diphtheriae toxoids (medicinal product) |
This attribute represents a characteristic that is applicable to a product. |
False |
Adulthood |
Inferred relationship |
Some |
|
A rare form of pterygium, which develops in early adulthood, characterised by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision. |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
A rare form of pterygium, which develops in early adulthood, characterised by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision. |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
2 |
Adult premenstrual acne |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |
Old age |
Is a |
True |
Adulthood |
Inferred relationship |
Some |
|
Middle age (qualifier value) |
Is a |
True |
Adulthood |
Inferred relationship |
Some |
|
Adult lichen sclerosus (disorder) |
Occurrence |
True |
Adulthood |
Inferred relationship |
Some |
1 |