254666005: Keratosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Keratosis

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Keratosis	Is a	Papular, squamous and granulomatous eruptions of skin	false	Inferred relationship	Some
Keratosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Keratosis	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Keratosis	Associated morphology	Eruption	false	Inferred relationship	Some	2
Keratosis	Is a	Epithelial hyperplasia of skin	false	Inferred relationship	Some
Keratosis	Associated morphology	Epithelial hyperplasia	false	Inferred relationship	Some	1
Keratosis	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
Keratosis	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Keratosis	Is a	Disorder of keratinisation	false	Inferred relationship	Some
Keratosis	Is a	Skin lesion (disorder)	false	Inferred relationship	Some
Keratosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Keratosis	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Keratosis	Associated morphology	Lesion (morphologic abnormality)	false	Inferred relationship	Some	2
Keratosis	Has interpretation	Abnormal	false	Inferred relationship	Some	1
Keratosis	Interprets	Keratinization	false	Inferred relationship	Some	1
Keratosis	Is a	Disorder of skin (disorder)	false	Inferred relationship	Some
Keratosis	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	2
Keratosis	Is a	Disease	true	Inferred relationship	Some
Keratosis	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Follicular keratosis (disorder)	Is a	False	Keratosis	Inferred relationship	Some
Multiple minute digitate hyperkeratosis of Goldstein	Is a	False	Keratosis	Inferred relationship	Some
Pityriasis rotunda	Is a	False	Keratosis	Inferred relationship	Some
Bowenoid actinic keratosis	Is a	False	Keratosis	Inferred relationship	Some
Transient acantholytic dermatosis	Is a	False	Keratosis	Inferred relationship	Some
Hyperkeratosis	Is a	False	Keratosis	Inferred relationship	Some
Akrokeratose	Is a	False	Keratosis	Inferred relationship	Some
Keratosis pilaris	Is a	False	Keratosis	Inferred relationship	Some
Acquired acanthosis nigricans	Is a	False	Keratosis	Inferred relationship	Some
Porokeratosis of Mibelli	Is a	False	Keratosis	Inferred relationship	Some
Acquired ichthyosis	Is a	False	Keratosis	Inferred relationship	Some
Confluent AND reticulate papillomatosis	Is a	False	Keratosis	Inferred relationship	Some
Acquired keratosis follicularis	Is a	False	Keratosis	Inferred relationship	Some
[X]Keratoderma in diseases classified elsewhere	Is a	False	Keratosis	Inferred relationship	Some
[X]Hypertrophic disorder of skin, unspecified	Is a	False	Keratosis	Inferred relationship	Some
Hyperkeratose	Is a	False	Keratosis	Inferred relationship	Some
Arsenical keratosis (disorder)	Is a	False	Keratosis	Inferred relationship	Some
Actinic keratosis (disorder)	Is a	False	Keratosis	Inferred relationship	Some
Slightly pigmented smooth or warty papules that are flesh colored and found on the upper surface of hands and feet.	Is a	False	Keratosis	Inferred relationship	Some
Formation of an epidermal layer which lacks nuclei during normal keratinization.	Is a	True	Keratosis	Inferred relationship	Some
superficiel keratose	Is a	False	Keratosis	Inferred relationship	Some
Acquired disorder of keratinization (disorder)	Is a	False	Keratosis	Inferred relationship	Some
Benign acanthosis nigricans	Is a	False	Keratosis	Inferred relationship	Some
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.	Is a	False	Keratosis	Inferred relationship	Some
Vitamin A deficiency with xeroderma	Is a	False	Keratosis	Inferred relationship	Some
Skin peeling disorder	Is a	False	Keratosis	Inferred relationship	Some
Hereditary acantholytic dermatosis	Is a	False	Keratosis	Inferred relationship	Some
Xeroderma of eyelid	Is a	False	Keratosis	Inferred relationship	Some
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	False	Keratosis	Inferred relationship	Some
Porokeratosis (disorder)	Is a	False	Keratosis	Inferred relationship	Some
Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.	Is a	False	Keratosis	Inferred relationship	Some
Familial benign pemphigus	Is a	False	Keratosis	Inferred relationship	Some
Xeroderma pigmentosum	Is a	False	Keratosis	Inferred relationship	Some
Ichthyosis	Is a	False	Keratosis	Inferred relationship	Some
Inverted follicular keratosis (disorder)	Is a	False	Keratosis	Inferred relationship	Some
Senile xeroderma	Is a	False	Keratosis	Inferred relationship	Some
Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.	Is a	False	Keratosis	Inferred relationship	Some
A syndromic genetic deafness with characteristics of erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.	Is a	False	Keratosis	Inferred relationship	Some
Hyperkeratotic eczema of soles	Is a	False	Keratosis	Inferred relationship	Some
Drug-induced ichthyosiform reaction	Is a	False	Keratosis	Inferred relationship	Some
Pityriasis rubra pilaris	Is a	False	Keratosis	Inferred relationship	Some
Acrokeratosis verruciformis of Hopf (disorder)	Is a	False	Keratosis	Inferred relationship	Some
Congenital keratoderma	Is a	False	Keratosis	Inferred relationship	Some
No hyperkeratosis (situation)	Associated finding	True	Keratosis	Inferred relationship	Some	1
Leukokeratosis of skin	Is a	False	Keratosis	Inferred relationship	Some
A rare genetic ectodermal dysplasia syndrome with characteristics of 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. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24.	Is a	False	Keratosis	Inferred relationship	Some
A rare genetic isolated palmoplantar keratoderma disorder with characteristics of 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. Caused by heterozygous mutation in the DSG1 gene on chromosome 18q12.	Is a	False	Keratosis	Inferred relationship	Some
A rare genetic isolated palmoplantar keratoderma disorder with characteristics of 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 ortho hyperkeratosis featuring widening of the intercellular spaces and dis-adhesion of keratocytes in the upper epidermal layers. Caused by heterozygous mutation in the DSG1 gene on chromosome 18q12.	Is a	False	Keratosis	Inferred relationship	Some
A rare genetic isolated focal palmoplantar keratoderma disease with characteristics of 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. Caused by heterozygous mutation in the KRT6C gene on chromosome 12q13.	Is a	False	Keratosis	Inferred relationship	Some
A rare genetic epidermal disease with characteristics of early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.	Is a	False	Keratosis	Inferred relationship	Some
A rare genetic syndromic intellectual disability disorder with characteristics of 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. There is evidence the disease is caused by homozygous mutation in the COG6 gene on chromosome 13q14.	Is a	False	Keratosis	Inferred relationship	Some
A rare genetic corneal dystrophy disorder with characteristics of 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	Keratosis	Inferred relationship	Some
A rare genetic punctate palmoplantar keratoderma disease with characteristics of 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	Keratosis	Inferred relationship	Some
Subungual hyperkeratosis	Is a	False	Keratosis	Inferred relationship	Some
Leukoedema of mouth	Is a	True	Keratosis	Inferred relationship	Some
Keratosis obturans of external ear canal	Is a	True	Keratosis	Inferred relationship	Some
A white mucosal lesion in the area of the mouth where there has been tobacco contact. The lesion develops as a result of habitual chewing of tobacco or use of snuff tobacco. The lesion is premalignant.	Is a	True	Keratosis	Inferred relationship	Some
Leukoplakia of male genital organs	Is a	True	Keratosis	Inferred relationship	Some
Vitamin A deficiency with follicular keratosis (disorder)	Is a	True	Keratosis	Inferred relationship	Some
kolesteatom i mellemøre/processus mastoideus	Is a	False	Keratosis	Inferred relationship	Some
An inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and in some cases intellectual deficit. Skin lesions occur in 80% of cases, ocular involvement in 75% of cases and neurologic findings and some degree of intellectual deficit in up to 60% of cases. Onset is variable but the ocular symptoms (redness, photophobia, excessive tearing and pain) usually develop in the first year of life. Cutaneous manifestations usually begin after the first year of life but may develop at the same time as the ocular symptoms. Caused by mutations in the TAT gene (16q22.1) encoding tyrosine aminotransferase (TAT). The elevated levels of tyrosine caused by TAT deficiency appear to result in deposition of tyrosine crystals leading to an inflammatory response and the oculocutaneous findings. Transmitted as an autosomal recessive trait.	Is a	False	Keratosis	Inferred relationship	Some
Oral lichenoid reaction	Is a	False	Keratosis	Inferred relationship	Some
Leukokeratosis nicotina palati	Is a	True	Keratosis	Inferred relationship	Some
Cholesteatoma	Is a	True	Keratosis	Inferred relationship	Some
Hyperkeratosis of nipple (disorder)	Is a	True	Keratosis	Inferred relationship	Some
Hyperkeratosis of mucous membrane of mouth due to and following traumatic injury (disorder)	Is a	True	Keratosis	Inferred relationship	Some
Actinic cheilitis	Is a	True	Keratosis	Inferred relationship	Some
Leukoplakia of vocal cords	Is a	True	Keratosis	Inferred relationship	Some
Leukoplakia of female genital organs	Is a	True	Keratosis	Inferred relationship	Some
Leukoplakia	Is a	True	Keratosis	Inferred relationship	Some
Leukokeratosis (disorder)	Is a	True	Keratosis	Inferred relationship	Some
Oral frictional keratosis	Is a	True	Keratosis	Inferred relationship	Some
Keratoderma	Is a	True	Keratosis	Inferred relationship	Some
Mastoid cholesteatoma	Is a	True	Keratosis	Inferred relationship	Some
Lichen sclerosus	Is a	True	Keratosis	Inferred relationship	Some
Cholesteatoma of orbit	Is a	True	Keratosis	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
379262019	Keratosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645592015	Keratosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3990605012	Hyperkeratosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2019931000005110	Keratose	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)