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254214009: Inherited disorder of keratinization (disorder)

Status: current, Defined. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

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

110 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inherited disorder of keratinisation Finding site Structure of integumentary system true Inferred relationship Some 2
Inherited disorder of keratinisation Is a Hereditary disorder of the integument true Inferred relationship Some
Inherited disorder of keratinisation Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Inherited disorder of keratinisation Is a Disorder of keratinisation true Inferred relationship Some
Inherited disorder of keratinisation Has definitional manifestation Abnormal keratinisation false Inferred relationship Some
Inherited disorder of keratinisation Associated morphology Congenital anomaly false Inferred relationship Some 1
Inherited disorder of keratinisation Associated morphology Congenital anomaly false Inferred relationship Some 1
Inherited disorder of keratinisation Finding site Skin structure false Inferred relationship Some 1
Inherited disorder of keratinisation Occurrence Congenital false Inferred relationship Some 2
Inherited disorder of keratinisation Associated morphology Developmental abnormality false Inferred relationship Some 2
Inherited disorder of keratinisation Finding site Skin structure false Inferred relationship Some 2
Inherited disorder of keratinisation Occurrence Congenital false Inferred relationship Some
Inherited disorder of keratinisation Finding site Skin structure false Inferred relationship Some 1
Inherited disorder of keratinisation Is a Genodermatosis false Inferred relationship Some
Inherited disorder of keratinisation Finding site Structure of integumentary system false Inferred relationship Some
Inherited disorder of keratinisation Has interpretation Abnormal true Inferred relationship Some 1
Inherited disorder of keratinisation Interprets Keratinisation true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Van den Bosch syndrome Is a False Inherited disorder of keratinisation Inferred relationship Some
Trichodysplasia xeroderma syndrome Is a False Inherited disorder of keratinisation Inferred relationship Some
Generalised peeling skin syndrome Is a False Inherited disorder of keratinisation Inferred relationship Some
Atrophoderma vermiculatum Is a True Inherited disorder of keratinisation Inferred relationship Some
Congenital ichthyosis of skin Is a True Inherited disorder of keratinisation Inferred relationship Some
Lelis syndrome Is a True Inherited disorder of keratinisation Inferred relationship Some
Xeroderma pigmentosum Is a False Inherited disorder of keratinisation Inferred relationship Some
Ankylosing vertebral hyperostosis with tylosis syndrome Is a False Inherited disorder of keratinisation Inferred relationship Some
Disseminated superficial porokeratosis Is a True Inherited disorder of keratinisation Inferred relationship Some
Porokeratosis plantaris palmaris et disseminata Is a True Inherited disorder of keratinisation Inferred relationship Some
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Is a True Inherited disorder of keratinisation Inferred relationship Some
Focal palmoplantar keratoderma with joint keratoses Is a True Inherited disorder of keratinisation Inferred relationship Some
Diffuse palmoplantar keratoderma with painful fissures Is a True Inherited disorder of keratinisation Inferred relationship Some
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Is a True Inherited disorder of keratinisation Inferred relationship Some
Leukoencephalopathy, palmoplantar keratoderma syndrome Is a True Inherited disorder of keratinisation Inferred relationship Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome Is a False Inherited disorder of keratinisation Inferred relationship Some
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Is a True Inherited disorder of keratinisation Inferred relationship Some
Palmoplantar keratoderma, spastic paralysis syndrome Is a True Inherited disorder of keratinisation Inferred relationship Some
Cutis gyrata syndrome of Beare and Stevenson Is a True Inherited disorder of keratinisation Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome Is a True Inherited disorder of keratinisation Inferred relationship Some
PLACK syndrome Is a True Inherited disorder of keratinisation Inferred relationship Some
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome Is a True Inherited disorder of keratinisation Inferred relationship Some
Pachyonychia congenita syndrome Is a False Inherited disorder of keratinisation Inferred relationship Some
Primary seborrhoea Is a False Inherited disorder of keratinisation Inferred relationship Some
Acrokeratosis verruciformis of Hopf Is a True Inherited disorder of keratinisation Inferred relationship Some
Familial benign pemphigus Is a True Inherited disorder of keratinisation Inferred relationship Some
Hereditary acantholytic dermatosis Is a True Inherited disorder of keratinisation Inferred relationship Some
Keratosis pilaris with ichthyosis and deafness Is a False Inherited disorder of keratinisation Inferred relationship Some
Hereditary palmoplantar keratoderma Is a False Inherited disorder of keratinisation Inferred relationship Some
Acral peeling skin syndrome Is a False Inherited disorder of keratinisation Inferred relationship Some
Hereditary skin peeling syndrome Is a False Inherited disorder of keratinisation Inferred relationship Some
Erythrokeratoderma Is a True Inherited disorder of keratinisation Inferred relationship Some
Hereditary erythrokeratolysis Is a True Inherited disorder of keratinisation Inferred relationship Some
Hereditary follicular keratoses Is a True Inherited disorder of keratinisation Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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