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254214009: Inherited disorder of keratinization (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
378439010 Inherited disorder of keratinization en Synonym Active Entire term case insensitive SNOMED CT core module
378440012 Inherited disorder of keratinisation en Synonym Active Entire term case insensitive SNOMED CT core module
645074016 Inherited disorder of keratinization (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


110 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inherited disorder of keratinization Is a Genodermatosis false Inferred relationship Existential restriction modifier
Inherited disorder of keratinization Occurrence Congenital false Inferred relationship Existential restriction modifier
Inherited disorder of keratinization Finding site Skin structure false Inferred relationship Existential restriction modifier 1
Inherited disorder of keratinization Is a Disorder of keratinization true Inferred relationship Existential restriction modifier
Inherited disorder of keratinization Has definitional manifestation Abnormal keratinization false Inferred relationship Existential restriction modifier
Inherited disorder of keratinization Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Inherited disorder of keratinization Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Inherited disorder of keratinization Finding site Skin structure false Inferred relationship Existential restriction modifier 1
Inherited disorder of keratinization Occurrence Congenital false Inferred relationship Existential restriction modifier 2
Inherited disorder of keratinization Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 2
Inherited disorder of keratinization Finding site Skin structure false Inferred relationship Existential restriction modifier 2
Inherited disorder of keratinization Finding site Structure of integumentary system false Inferred relationship Existential restriction modifier
Inherited disorder of keratinization Has interpretation Abnormal true Inferred relationship Existential restriction modifier 1
Inherited disorder of keratinization Interprets Keratinization, function true Inferred relationship Existential restriction modifier 1
Inherited disorder of keratinization Finding site Structure of integumentary system true Inferred relationship Existential restriction modifier 2
Inherited disorder of keratinization Is a Hereditary disorder of the integument true Inferred relationship Existential restriction modifier
Inherited disorder of keratinization Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Keratosis pilaris with ichthyosis and deafness Is a False Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Hereditary palmoplantar keratoderma Is a False Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Erythrokeratoderma Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Hereditary erythrokeratolysis Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Hereditary follicular keratoses Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Pachyonychia congenita syndrome Is a False Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Familial benign pemphigus Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Hereditary acantholytic dermatosis Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Primary seborrhea Is a False Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Acrokeratosis verruciformis of Hopf Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Acral peeling skin syndrome Is a False Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Hereditary skin peeling syndrome Is a False Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Van den Bosch syndrome Is a False Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Trichodysplasia xeroderma syndrome Is a False Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Generalized peeling skin syndrome Is a False Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Atrophoderma vermiculatum Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Congenital ichthyosis of skin Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Ectodermal dysplasia with acanthosis nigricans syndrome Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Xeroderma pigmentosum Is a False Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Ankylosing vertebral hyperostosis with tylosis syndrome Is a False Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Disseminated superficial porokeratosis Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Porokeratosis plantaris palmaris et disseminata Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Skin fragility, wooly hair, palmoplantar keratoderma syndrome Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Focal palmoplantar keratoderma with joint keratoses Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Diffuse palmoplantar keratoderma with painful fissures Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Leukoencephalopathy, palmoplantar keratoderma syndrome Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome Is a False Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Palmoplantar keratoderma, spastic paralysis syndrome Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Cutis gyrata syndrome of Beare and Stevenson Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier
Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome Is a True Inherited disorder of keratinization Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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