Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
BCG-induced scrofuloderma |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Non-pyogenic bacterial infection of skin |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
BCG-induced tuberculide |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Cutaneous schistosomiasis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Cercarial dermatitis of freshwater avian type |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Bacillary angiomatosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
BCG-induced lupus vulgaris |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Cellulocutaneous plague (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Larva currens |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Cutaneous strongyloidiasis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Strongyloidal ground itch (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Primary cutaneous blastomycosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Disseminated cutaneous blastomycosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Cutaneous blastomycosis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Toxocara larva migrans of skin |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Skin wash using sodium hypochlorite |
Procedure site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Gingival disease due to erythema multiforme |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Reconstruction of pressure ulcer |
Procedure site - Direct (attribute) |
False |
Skin structure |
Inferred relationship |
Some |
1 |
Eruption of skin co-occurrent with human immunodeficiency virus infection |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Disorder of skin co-occurrent with human immunodeficiency virus infection (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Eruption of skin caused by antiretroviral drug |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Multidermatomal infection caused by Herpes zoster co-occurrent with human immunodeficiency virus infection (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
Gingival disease co-occurrent and due to lichen planus |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Gingival disease co-occurrent and due to pemphigoid |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Cutaneous aspergillosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Cutaneous hyalohyphomycosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Disseminated cutaneous mycosis caused by Fusarium (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Cutaneous paracoccioidomycosis (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Fungal infection of skin. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Malassezia infection of skin (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Disseminated cutaneous mycosis due to Trichosporon |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Cutaneous alternariosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Scytalidium hyalinum infection of skin |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Systemisk mykotisk infektion, der afficerer hud |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Steroid-modified tinea infection |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Disseminated cutaneous mycosis (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Acladiose |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Dermatomycosis with AIDS (acquired immunodeficiency syndrome) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Disseminated cutaneous mycosis caused by Penicillium |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Trichosporon beigelii infection (piedra) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Lymphocutaneous chromoblastomycosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Scytalidium dimidiatum-infektion i huden |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Cutaneous chromoblastomycosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Lupus vulgaris |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Herpetic whitlow |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
candidiasis i hud og negle |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Application of topical agent to skin |
Procedure site - Indirect (attribute) |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Application of cream to skin |
Procedure site - Indirect (attribute) |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Application of moisturizer to skin |
Procedure site - Indirect (attribute) |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Dermatosis caused by plant mite (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
|
Ulcerating cutaneous leishmaniasis of lower extremity (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Contact dermatitis caused by Senecio jacobea |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS). |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
6 |
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
6 |
A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Infection of skin caused by Neoscytalidium dimidiatum (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjunctiva. No hypopigmentation macules are observed and no systemic diseases are associated. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS). |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrimal punctum may be occasionally absent. There have been no further descriptions in the literature since 1975. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Pemphigus vulgaris of gingival mucous membrane (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
Pemphigus vulgaris of gingival mucous membrane (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
6 |
Acute lymphangitis of skin excluding digits of hand or foot |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Actinic granuloma |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Actinic granuloma |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Infective dermatitis co-occurrent and due to human T-cell lymphotropic virus 1 infection |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) characterized by a generally mild cutaneous desquamation in association with extracutaneous manifestations as part of a syndrome. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Ichthyosis cheek eyebrow syndrome (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuro-psychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as Sjögren's syndrome and CREST syndrome. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-colored mucinous papules on the limbs and trunk. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-colored mucinous papules on the limbs and trunk. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Lichen planus of gingiva (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
A rare ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
A rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
|
Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Circumscribed solid basal cell carcinoma (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Nodular basal cell carcinoma of skin (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Malakoplakia (involving skin) (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex characterized by generalized superficial erosions and less commonly blistering. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex characterized by generalized superficial erosions and less commonly blistering. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |