Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Leukemic infiltration of skin in hairy-cell leukemia (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Rheumatoid neutrophilic dermatitis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Familial normophosphatemic tumoral calcinosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
Infective dermatitis associated with HTLV-1 is a rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Presence of neoplasm of skin at peripheral surgical margin in excised specimen of skin |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Skin structure |
Inferred relationship |
Some |
7 |
Presence of malignant melanoma at deep surgical margin in excised specimen of skin |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Skin structure |
Inferred relationship |
Some |
7 |
Radial location of melanoma in situ in peripheral surgical margin of excised skin specimen (observable entity) |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Skin structure |
Inferred relationship |
Some |
7 |
Radial location of malignant melanoma in peripheral surgical margin of excised specimen of skin |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Skin structure |
Inferred relationship |
Some |
7 |
Presence of neoplasm at deep surgical margin in excised specimen of skin (observable entity) |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Skin structure |
Inferred relationship |
Some |
7 |
A rare genodermatosis disease with great phenotypic variation and characterised most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Systemic onset juvenile chronic arthritis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Adult onset Still's disease |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
4 |
Sclerodermoid chronic graft-versus-host disease (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Invasive cutaneous aspergillosis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears), and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
6 |
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
4 |
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Normal cutaneous microbiota |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Protein contact dermatitis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Dermatological pathomimicry |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Repetitive self-excoriation |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Habit tic (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
Habit tic affecting skin (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Habit tic affecting hair (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Addictive behavior with potential to damage skin (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Deliberate self-cutting (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Contact urticaria artefacta (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Patch test artefact |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Cutaneous Munchausen syndrome (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Addiction to sun exposure (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Addiction to sunbed use (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Laminopathy with premature aging (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Infection of skin caused by Panton-Valentine leukocidin producing Staphylococcus aureus (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Neoscytalidium dermatomycosis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
A rare, inherited, epidermolysis bullosa characterized by aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars, and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilated cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes, above the hemidesmosomes. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
6 |
Skin infection caused by Methicillin resistant Staphylococcus aureus (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Rash of skin due to bacteremia (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Skin reaction caused by streptococcus toxin (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Foreign body in skin wound |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Splinter in skin with infection (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Glass foreign body in skin (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Maternal perinatal purpura (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Fetal purpura (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Perinatal disorder of skin and temperature regulation (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Asteatosis cutis caused by Mycobacterium leprae (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Aggressive NK-cell leukaemia involving skin |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Primary Kaposi sarcoma of skin |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Primary Kaposi sarcoma of skin |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Irritant contact dermatitis due to fistula (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
A rare primary lymphoedema characterised by extensive, multisegmental lymphoedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal naevi and capillary malformations have also been reported. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Infestation by Notoedres |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Infestation by Notoedres cati |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Incision and exploration of sinus tract |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Incision and exploration of skin |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Giant pigmented naevus of skin |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Congenital benign giant pigmented nevus of skin (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Delay of flap of skin to head or neck |
Procedure site - Direct (attribute) |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Type 1 hypersensitivity skin test |
Procedure site - Direct (attribute) |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Scratch test |
Procedure site - Direct (attribute) |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Intradermal test of type 1 hypersensitivity (procedure) |
Procedure site - Direct (attribute) |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Subcutaneous test of type 1 hypersensitivity |
Procedure site - Direct (attribute) |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Schwannoma of skin (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Irritated melanocytic nevus of skin |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Traumatised seborrhoeic keratosis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Metastatic malignant melanoma to skin (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Excision of leg pressure ulcer with local skin flap |
Procedure site - Direct (attribute) |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Local sensory skin flap (procedure) |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Perforating granuloma annulare (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Subcutaneous granuloma annulare (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
A rare genetic disease characterised by infantile or childhood onset of abnormal growth of hyalinised fibrous tissue, giving rise to multiple cutaneous nodules and/or pearly papules predominantly affecting the scalp, ears, neck, face, hands, and feet. Involvement of other organs results in gingival hyperplasia, osteolytic bone lesions, and joint contractures. Some patients exhibit visceral involvement with intractable diarrhoea, increased susceptibility to infections, and severe failure to thrive. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
4 |
A rare hyaline fibromatosis syndrome with characteristics of papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
5 |
Malignant melanoma arising in melanocytic nevus |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Persistent melanocytic naevus |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Thinning of skin flap |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Sensory skin flap |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Bipedicled sensory flap |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Cauterisation of wart of skin |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Harvest of full thickness skin from postauricular region |
Procedure site - Direct (attribute) |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Reconstruction using distant pedicle skin flap |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Reconstruction using distant pedicle random pattern skin flap (procedure) |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Reconstruction using distant pedicle axial pattern skin flap (procedure) |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Reconstruction of skin using local subcutaneous pedicle skin flap (procedure) |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Reconstruction using pedicle skin flap (procedure) |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Full thickness skin transplantation with tube and pedicle |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Reconstruction of skin using local V-Y advancement flap (procedure) |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Neurovascular island sensory skin flap |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Reconstruction of skin using local subcutaneous pedicle island skin flap (procedure) |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Reconstruction of skin using local subcutaneous pedicle V-Y skin flap (procedure) |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Reconstruction of skin using local subcutaneous pedicle axial pattern skin flap (procedure) |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Reconstruction of skin using local subcutaneous pedicle V-Y axial pattern skin flap (procedure) |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Reconstruction of skin using local subcutaneous pedicle island axial pattern skin flap (procedure) |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Reconstruction of skin using local subcutaneous pedicle island random pattern skin flap (procedure) |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Reconstruction of skin using local subcutaneous pedicle V-Y random pattern skin flap (procedure) |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |