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44138005: Keratinization, function (observable entity)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
73613019 Keratinization en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
493794013 Keratinisation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1203192014 Keratinization, function (observable entity) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2670991015 Keratinization, function en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
7075921000241114 kératinisation fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Keratinization Is a Skin function false Inferred relationship Some
Keratinization Is a Skin growth, function (observable entity) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Classical juvenile pityriasis rubra pilaris Interprets True Keratinization Inferred relationship Some 3
Circumscribed juvenile pityriasis rubra pilaris Interprets True Keratinization Inferred relationship Some 3
Atypical juvenile pityriasis rubra pilaris Interprets True Keratinization Inferred relationship Some 3
Keratoderma blennorrhagicum (disorder) Interprets False Keratinization Inferred relationship Some 3
Hereditary benign acanthosis nigricans Interprets False Keratinization Inferred relationship Some 4
Acquired plantar keratoderma (disorder) Interprets False Keratinization Inferred relationship Some 3
Acquired keratoderma (disorder) Interprets False Keratinization Inferred relationship Some 3
Hereditary benign acanthosis nigricans with insulin resistance Interprets False Keratinization Inferred relationship Some 4
Pityriasis rubra (Hebra) Interprets True Keratinization Inferred relationship Some 3
Hereditary acantholytic dermatosis Interprets True Keratinization Inferred relationship Some 3
Darier disease Interprets True Keratinization Inferred relationship Some 3
Pityriasis rubra pilaris Interprets True Keratinization Inferred relationship Some 3
Nail dystrophy due to Darier's disease (disorder) Interprets True Keratinization Inferred relationship Some 4
kératodermie acquise palmaire et plantaire Interprets False Keratinization Inferred relationship Some 2
Acquired keratosis pilaris Interprets True Keratinization Inferred relationship Some 3
Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients. Interprets False Keratinization Inferred relationship Some 3
Classical adult pityriasis rubra pilaris Interprets True Keratinization Inferred relationship Some 3
Atypical adult pityriasis rubra pilaris Interprets True Keratinization Inferred relationship Some 3
Acquired disorder of keratinization (disorder) Interprets True Keratinization Inferred relationship Some 2
Drug-induced ichthyosiform reaction Interprets True Keratinization Inferred relationship Some 3
Focal acral hyperkeratosis (disorder) Interprets False Keratinization Inferred relationship Some 2
Acral Darier's disease (disorder) Interprets True Keratinization Inferred relationship Some 3
Palmar pitting due to Darier disease Interprets True Keratinization Inferred relationship Some 3
Acrokeratosis verruciformis of Darier disease (disorder) Interprets True Keratinization Inferred relationship Some 3
Flexural Darier's disease (disorder) Interprets True Keratinization Inferred relationship Some 3
Hypertrophic Darier's disease (disorder) Interprets True Keratinization Inferred relationship Some 3
Linear/nevoid/zosteriform Darier's disease (disorder) Interprets True Keratinization Inferred relationship Some 3
Acquired ichthyosis Interprets True Keratinization Inferred relationship Some 1
Acrokeratosis paraneoplastica of Bazex Interprets False Keratinization Inferred relationship Some 3
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. Interprets True Keratinization Inferred relationship Some 1
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. Interprets False Keratinization Inferred relationship Some 1
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. Interprets True Keratinization Inferred relationship Some 1
Leukokeratosis of skin Interprets True Keratinization Inferred relationship Some 2
Leukokeratosis (disorder) Interprets True Keratinization Inferred relationship Some 1
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. Interprets True Keratinization Inferred relationship Some 2
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. Interprets True Keratinization Inferred relationship Some 4
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. Interprets True Keratinization Inferred relationship Some 2
Ichthyosis hystrix Interprets True Keratinization Inferred relationship Some 2
Severe ichthyoses Interprets True Keratinization Inferred relationship Some 2
Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two siblings born to first cousin parents. Transmission appears to be autosomal recessive. Interprets True Keratinization Inferred relationship Some 4
Atypical ichthyosis vulgaris with hypogonadism Interprets True Keratinization Inferred relationship Some 2
Ichthyosis-hypotrichosis syndrome is characterized by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation. Interprets True Keratinization Inferred relationship Some 3
Autosomal recessive ichthyosis (disorder) Interprets True Keratinization Inferred relationship Some 2
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. Interprets True Keratinization Inferred relationship Some 2
A rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss. Interprets True Keratinization Inferred relationship Some 2
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. Interprets True Keratinization Inferred relationship Some 2
Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment. Interprets True Keratinization Inferred relationship Some 2
Ichthyosis linearis circumflexa Interprets True Keratinization Inferred relationship Some 2
Ichthyosis hystrix gravior of Rheydt Interprets False Keratinization Inferred relationship Some 2
Congenital non bullous ichthyosiform erythroderma (disorder) Interprets True Keratinization Inferred relationship Some 2
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. Interprets True Keratinization Inferred relationship Some 4
Cutaneous syndrome with ichthyosis Interprets True Keratinization Inferred relationship Some 2
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body. Interprets True Keratinization Inferred relationship Some 2
Limb reduction-ichthyosis syndrome Interprets True Keratinization Inferred relationship Some 3
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) Interprets True Keratinization Inferred relationship Some 2
Hystrix ichthyosis with deafness Interprets False Keratinization Inferred relationship Some 2
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder) Interprets True Keratinization Inferred relationship Some 2
Ichthyosis bullosa of Siemens Interprets True Keratinization Inferred relationship Some 2
Non-bullous ichthyosiform erythroderma Interprets False Keratinization Inferred relationship Some 2
Sjögren-Larsson syndrome (disorder) Interprets True Keratinization Inferred relationship Some 2
Erythrodermic lamellar ichthyosis Interprets True Keratinization Inferred relationship Some 2
Ichthyosis cheek eyebrow syndrome (disorder) Interprets True Keratinization Inferred relationship Some 3
Congenital cataract ichthyosis syndrome Interprets True Keratinization Inferred relationship Some 3
Ichthyosis vulgaris Interprets True Keratinization Inferred relationship Some 2
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. Interprets True Keratinization Inferred relationship Some 4
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. Interprets True Keratinization Inferred relationship Some 3
Congenital ichthyosis of skin Interprets True Keratinization Inferred relationship Some 2
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. Interprets True Keratinization Inferred relationship Some 4
Autosomal dominant ichthyosis (disorder) Interprets True Keratinization Inferred relationship Some 2
A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. Interprets True Keratinization Inferred relationship Some 2
Lamellar ichthyosis (limited type) (disorder) Interprets True Keratinization Inferred relationship Some 2
Senter syndrome Interprets True Keratinization Inferred relationship Some 3
A rare type of keratinopathic ichthyosis characterised by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma. The skin is usually normal at birth. The disease starts in early childhood with severe hyperkeratosis of yellow-brown or grey colour, and of spiky, cobblestone-like (hystrix) or verrucous appearance. Contrary to other keratinopathic ichthyoses, no skin fragility/blister formation or erythroderma is present. The disease results from heterozygous frameshift mutation in a section of the KRT1 gene encoding keratin 1 (K1). These mutations lead to an abnormal supramolecular organisation of keratin intermediate filaments and may be related to defects in cytoplasmic trafficking and integrity of cellular structures such as organelles and nucleus. Transmission is autosomal dominant but some sporadic cases have been reported. Interprets True Keratinization Inferred relationship Some 2
Ichthyosis Interprets False Keratinization Inferred relationship Some 2
Porcupine man Interprets False Keratinization Inferred relationship Some 2
érythrokératodermie, trichorrhexie noueuse et dermatite atopique Interprets False Keratinization Inferred relationship Some 2
Keratinopathic ichthyosis (disorder) Interprets True Keratinization Inferred relationship Some 2
Autosomal dominant ichthyosis vulgaris Interprets True Keratinization Inferred relationship Some 2
X-linked ichthyosis with steryl-sulfatase deficiency Interprets True Keratinization Inferred relationship Some 2
Localised bullous ichthyosiform erythroderma Interprets True Keratinization Inferred relationship Some 2
A rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy. Interprets True Keratinization Inferred relationship Some 2
Autosomal dominant lamellar ichthyosis Interprets True Keratinization Inferred relationship Some 2
Ichthyosis follicularis with alopecia and photophobia (IFAP) Interprets True Keratinization Inferred relationship Some 2
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. Interprets True Keratinization Inferred relationship Some 2
Lamellar ichthyosis Interprets True Keratinization Inferred relationship Some 2
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. Interprets True Keratinization Inferred relationship Some 4
Ichthyosis congenita with biliary atresia Interprets True Keratinization Inferred relationship Some 3
Non-erythrodermic lamellar ichthyosis Interprets True Keratinization Inferred relationship Some 2
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. Interprets True Keratinization Inferred relationship Some 4
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia. Interprets True Keratinization Inferred relationship Some 5
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. Interprets True Keratinization Inferred relationship Some 2
Harlequin ichthyosis Interprets True Keratinization Inferred relationship Some 4
Netherton syndrome Interprets True Keratinization Inferred relationship Some 3
A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated. Interprets True Keratinization Inferred relationship Some 3
Ichthyosis hystrix Bäfverstedt type (disorder) Interprets True Keratinization Inferred relationship Some 3
Bullous ichthyosiform erythroderma Interprets True Keratinization Inferred relationship Some 3
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. Interprets True Keratinization Inferred relationship Some 2
Rud's syndrome Interprets True Keratinization Inferred relationship Some 3
Hyperkeratotic eczema of palms and soles Interprets False Keratinization Inferred relationship Some 5
Hyperkeratotic eczema of soles Interprets False Keratinization Inferred relationship Some 3
Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Interprets True Keratinization Inferred relationship Some 4

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