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254214009: Inherited disorder of keratinization (disorder)

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

Descriptions:

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
378439010 Inherited disorder of keratinization en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
5082801000241113 affection héréditaire de la kératinisation fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5082801000241113 affection héréditaire de la kératinisation fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

110 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inherited disorder of keratinisation Is a Genodermatosis false Inferred relationship Existential restriction modifier (core metadata concept)
Inherited disorder of keratinisation Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Inherited disorder of keratinisation Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Inherited disorder of keratinisation Is a Disorder of keratinisation true Inferred relationship Existential restriction modifier (core metadata concept)
Inherited disorder of keratinisation Has definitional manifestation Abnormal keratinization false Inferred relationship Existential restriction modifier (core metadata concept)
Inherited disorder of keratinisation Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Inherited disorder of keratinisation Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Inherited disorder of keratinisation Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Inherited disorder of keratinisation Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Inherited disorder of keratinisation Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Inherited disorder of keratinisation Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Inherited disorder of keratinisation Finding site Integumentary system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Inherited disorder of keratinisation Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inherited disorder of keratinisation Interprets Keratinisation true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inherited disorder of keratinisation Finding site Integumentary system structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inherited disorder of keratinisation Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inherited disorder of keratinisation Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Keratosis pilaris with ichthyosis and deafness Is a False Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary palmoplantar keratoderma Is a False Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Erythrokeratoderma Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary erythrokeratolysis Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary follicular keratoses (disorder) Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Pachyonychia congenita syndrome Is a False Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Familial benign pemphigus (disorder) Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary acantholytic dermatosis (disorder) Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Primary seborrhea Is a False Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Acrokeratosis verruciformis of Hopf (disorder) Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Acral peeling skin syndrome Is a False Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary skin peeling syndrome (disorder) Is a False Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Van den Bosch syndrome (disorder) Is a False Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
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 keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Generalized peeling skin syndrome (disorder) Is a False Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Atrophoderma vermiculatum Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Congenital ichthyosis of skin Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Lelis syndrome Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder) Is a False Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
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 keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Disseminated superficial porokeratosis (disorder) Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Porokeratosis plantaris palmaris et disseminata Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Focal palmoplantar keratoderma with joint keratoses Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Diffuse palmoplantar keratoderma with painful fissures Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy, palmoplantar keratoderma syndrome Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) Is a False Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma, spastic paralysis syndrome Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Cutis gyrata syndrome of Beare and Stevenson (disorder) Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a True Inherited disorder of keratinisation Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic skin disease characterised by generalised 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 keratinisation Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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