| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Congenital keratoderma |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
| A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. |
Is a |
False |
Rough skin (finding) |
Inferred relationship |
Some |
|
| A rare, genetic, isolated palmoplantar keratoderma characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints. |
Is a |
False |
Rough skin (finding) |
Inferred relationship |
Some |
|
| A rare, genetic, isolated palmoplantar keratoderma characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers. |
Is a |
False |
Rough skin (finding) |
Inferred relationship |
Some |
|
| A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis. |
Is a |
False |
Rough skin (finding) |
Inferred relationship |
Some |
|
| A rare, genetic punctate palmoplantar keratoderma disease characterized by discrete, focal, punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983. |
Is a |
False |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Leukokeratosis of skin |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
| 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. |
Is a |
False |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterised by severe intellectual disability with significant speech and language impairment, hypohidrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed. |
Is a |
False |
Rough skin (finding) |
Inferred relationship |
Some |
|
| A rare ophthalmic disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhinitis, dyshidrosis and/or nail thickening. |
Is a |
False |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Acquired acanthosis nigricans |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Rough skin of hands |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Ichthyosis |
Is a |
False |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Follicular keratosis |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Porokeratosis of Mibelli |
Is a |
False |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Congenital ichthyosis of skin |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Acquired ichthyosis |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Harlequin fetus |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Ichthyosis hystrix |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Drug-induced ichthyosiform reaction |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
| Malignant acanthosis nigricans |
Is a |
True |
Rough skin (finding) |
Inferred relationship |
Some |
|
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]