254214009: Inherited disorder of keratinization (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Functional finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinization

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinization

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization

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
Inherited disorder of keratinization	Is a	Genodermatosis (disorder)	false	Inferred relationship	Some
Inherited disorder of keratinization	Occurrence	Congenital	false	Inferred relationship	Some
Inherited disorder of keratinization	Finding site	Skin structure	false	Inferred relationship	Some	1
Inherited disorder of keratinization	Is a	Disorder of keratinisation	true	Inferred relationship	Some
Inherited disorder of keratinization	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
Inherited disorder of keratinization	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Inherited disorder of keratinization	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Inherited disorder of keratinization	Finding site	Skin structure	false	Inferred relationship	Some	1
Inherited disorder of keratinization	Occurrence	Congenital	false	Inferred relationship	Some	2
Inherited disorder of keratinization	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Inherited disorder of keratinization	Finding site	Skin structure	false	Inferred relationship	Some	2
Inherited disorder of keratinization	Finding site	Structure of integumentary system (body structure)	false	Inferred relationship	Some
Inherited disorder of keratinization	Has interpretation	Abnormal	true	Inferred relationship	Some	1
Inherited disorder of keratinization	Interprets	Keratinization	true	Inferred relationship	Some	1
Inherited disorder of keratinization	Finding site	Structure of integumentary system (body structure)	true	Inferred relationship	Some	2
Inherited disorder of keratinization	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Inherited disorder of keratinization	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Keratosis pilaris med iktyose og døvhed	Is a	False	Inherited disorder of keratinization	Inferred relationship	Some
Hereditary palmoplantar keratoderma	Is a	False	Inherited disorder of keratinization	Inferred relationship	Some
Erythrokeratoderma	Is a	True	Inherited disorder of keratinization	Inferred relationship	Some
Hereditary erythrokeratolysis	Is a	True	Inherited disorder of keratinization	Inferred relationship	Some
Hereditary follicular keratoses	Is a	True	Inherited disorder of keratinization	Inferred relationship	Some
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	True	Inherited disorder of keratinization	Inferred relationship	Some
Pachyonychia congenita syndrome	Is a	False	Inherited disorder of keratinization	Inferred relationship	Some
Familial benign pemphigus	Is a	True	Inherited disorder of keratinization	Inferred relationship	Some
Hereditary acantholytic dermatosis	Is a	True	Inherited disorder of keratinization	Inferred relationship	Some
Primær seboré	Is a	False	Inherited disorder of keratinization	Inferred relationship	Some
Acrokeratosis verruciformis of Hopf (disorder)	Is a	True	Inherited disorder of keratinization	Inferred relationship	Some
Acral peeling skin syndrome	Is a	False	Inherited disorder of keratinization	Inferred relationship	Some
A group of rare autosomal recessive forms of ichthyosis clinically characterized by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution for generalized PSS type A (noninflammatory) or B (inflammatory).	Is a	False	Inherited disorder of keratinization	Inferred relationship	Some
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959.	Is a	False	Inherited disorder of keratinization	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	Inherited disorder of keratinization	Inferred relationship	Some
A form of peeling skin syndrome characterized by a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial non-inflammatory peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.	Is a	False	Inherited disorder of keratinization	Inferred relationship	Some
Atrophoderma vermiculatum	Is a	True	Inherited disorder of keratinization	Inferred relationship	Some
Congenital ichthyosis of skin	Is a	True	Inherited disorder of keratinization	Inferred relationship	Some
Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.	Is a	True	Inherited disorder of keratinization	Inferred relationship	Some
Xeroderma pigmentosum	Is a	False	Inherited disorder of keratinization	Inferred relationship	Some
A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.	Is a	False	Inherited disorder of keratinization	Inferred relationship	Some
Disseminated superficial porokeratosis	Is a	True	Inherited disorder of keratinization	Inferred relationship	Some
A rare genetic disease which is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually spread to other body zones.	Is a	True	Inherited disorder of keratinization	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	True	Inherited disorder of keratinization	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	True	Inherited disorder of keratinization	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	True	Inherited disorder of keratinization	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	True	Inherited disorder of keratinization	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	True	Inherited disorder of keratinization	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	Inherited disorder of keratinization	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	True	Inherited disorder of keratinization	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	True	Inherited disorder of keratinization	Inferred relationship	Some
Cutis gyrata syndrome of Beare and Stevenson	Is a	True	Inherited disorder of keratinization	Inferred relationship	Some
A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features.	Is a	True	Inherited disorder of keratinization	Inferred relationship	Some
A rare genetic skin disease characterized by generalized skin peeling or superficial blisters without scarring, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, painful angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas is not specific and shows hyperkeratosis, acanthosis, and occasional intraepidermal clefting with irregular acantholysis.	Is a	True	Inherited disorder of keratinization	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
378439010	Inherited disorder of keratinization	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378440012	Inherited disorder of keratinisation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645074016	Inherited disorder of keratinization (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2300201000005116	hereditær forstyrrelse af keratinisering	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)