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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
73613019 Keratinization en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
781231017 Keratinization (function) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1203192014 Keratinization, function (observable entity) en Fully specified name Active Only initial character 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 Only initial character 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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Keratinisation Is a Skin function (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept)
Keratinisation Is a Skin growth true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Classical juvenile pityriasis rubra pilaris Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Circumscribed juvenile pityriasis rubra pilaris Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Atypical juvenile pityriasis rubra pilaris Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Keratoderma blennorrhagicum Interprets False Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary benign acanthosis nigricans (disorder) Interprets False Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 4
Acquired plantar keratoderma (disorder) Interprets False Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Acquired keratoderma (disorder) Interprets False Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary benign acanthosis nigricans with insulin resistance Interprets False Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 4
Pityriasis rubra (Hebra) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary acantholytic dermatosis (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Darier disease Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Pityriasis rubra pilaris Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Nail dystrophy due to Darier's disease Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 4
kératodermie acquise palmaire et plantaire Interprets False Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Acquired keratosis pilaris Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Trichodysplasia spinulosa caused by Polyomavirus (disorder) Interprets False Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Classical adult pityriasis rubra pilaris Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Atypical adult pityriasis rubra pilaris (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Acquired disorder of keratinisation Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Drug-induced ichthyosiform reaction Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Focal acral hyperkeratosis (disorder) Interprets False Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Acral Darier's disease (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Palmar pitting due to Darier disease (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Acrokeratosis verruciformis of Darier disease Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Flexural Darier's disease (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypertrophic Darier's disease (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Linear/nevoid/zosteriform Darier's disease (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Acquired ichthyosis (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrokeratosis paraneoplastica of Bazex Interprets False Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Leukoencephalopathy, palmoplantar keratoderma syndrome Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) Interprets False Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 1
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 1
Leukokeratosis of skin (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Leukokeratosis (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 1
Diffuse palmoplantar keratoderma with painful fissures Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 4
Focal palmoplantar keratoderma with joint keratoses Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Ichthyosis hystrix (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe ichthyoses Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Ichthyosis, oral and digital anomalies syndrome (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 4
Atypical ichthyosis vulgaris with hypogonadism Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital ichthyosis with hypotrichosis syndrome (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive ichthyosis (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Acral self-healing collodion baby Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Keratitis ichthyosis and deafness syndrome Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Syndromic recessive X-linked ichthyosis (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 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 Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Ichthyosis linearis circumflexa Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Ichthyosis hystrix gravior of Rheydt Interprets False Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital non bullous ichthyosiform erythroderma Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 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 Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 4
Cutaneous syndrome with ichthyosis Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Bathing suit ichthyosis Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Limb reduction-ichthyosis syndrome Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Hystrix ichthyosis with deafness Interprets False Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Ichthyosis bullosa of Siemens Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Non-bullous ichthyosiform erythroderma Interprets False Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Sjögren-Larsson syndrome (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Erythrodermic lamellar ichthyosis Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Ichthyosis cheek eyebrow syndrome (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital cataract ichthyosis syndrome Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Ichthyosis vulgaris Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterised by severe generalised 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 Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 4
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital ichthyosis of skin Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 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 Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant ichthyosis (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Annular epidermolytic ichthyosis (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Lamellar ichthyosis (limited type) (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Senter syndrome Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 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 Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Ichthyosis (disorder) Interprets False Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Porcupine man Interprets False Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
érythrokératodermie, trichorrhexie noueuse et dermatite atopique Interprets False Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Keratinopathic ichthyosis (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant ichthyosis vulgaris Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked ichthyosis with steryl-sulphatase deficiency Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Localised bullous ichthyosiform erythroderma Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare, syndromic congenital ichthyosis characterised 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 Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant lamellar ichthyosis (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Ichthyosis follicularis with alopecia and photophobia (IFAP) (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Self-healing collodion baby Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Lamellar ichthyosis Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 4
Ichthyosis congenita with biliary atresia Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Non-erythrodermic lamellar ichthyosis Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 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 Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 4
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 5
Palmoplantar keratoderma, spastic paralysis syndrome Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Harlequin ichthyosis Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 4
Netherton syndrome (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypotrichosis and deafness syndrome (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Ichthyosis hystrix Bäfverstedt type (disorder) Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Bullous ichthyosiform erythroderma Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 2
Rud's syndrome Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Hyperkeratotic eczema of palms and soles (disorder) Interprets False Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 5
Hyperkeratotic eczema of soles Interprets False Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 3
Neu-Laxova syndrome Interprets True Keratinisation Inferred relationship Existential restriction modifier (core metadata concept) 4

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