FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.10 | FHIR Version n/a User: [n/a]

254214009: Inherited disorder of keratinization (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Functional finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inherited disorder of keratinisation	Is a	Genodermatosis	false	Inferred relationship	Some
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	Disorder of keratinisation	true	Inferred relationship	Some
Inherited disorder of keratinisation	Has definitional manifestation	Abnormal keratinization	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 anomaly	false	Inferred relationship	Some	2
Inherited disorder of keratinisation	Finding site	Skin structure	false	Inferred relationship	Some	2
Inherited disorder of keratinisation	Finding site	Structure of integumentary system (body structure)	false	Inferred relationship	Some
Inherited disorder of keratinisation	Has interpretation	Abnormal	true	Inferred relationship	Some	1
Inherited disorder of keratinisation	Interprets	Keratinization	true	Inferred relationship	Some	1
Inherited disorder of keratinisation	Finding site	Structure of integumentary system (body structure)	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 (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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
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
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	True	Inherited disorder of keratinisation	Inferred relationship	Some
Pachyonychia congenita syndrome	Is a	False	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
Primary seborrhea	Is a	False	Inherited disorder of keratinisation	Inferred relationship	Some
Acrokeratosis verruciformis of Hopf (disorder)	Is a	True	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 (disorder)	Is a	False	Inherited disorder of keratinisation	Inferred relationship	Some
Van den Bosch syndrome (disorder)	Is a	False	Inherited disorder of keratinisation	Inferred relationship	Some
Trichodysplasia xeroderma syndrome (disorder)	Is a	False	Inherited disorder of keratinisation	Inferred relationship	Some
Generalized peeling skin syndrome (disorder)	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 (disorder)	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 (disorder)	Is a	True	Inherited disorder of keratinisation	Inferred relationship	Some
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder)	Is a	True	Inherited disorder of keratinisation	Inferred relationship	Some
Focal palmoplantar keratoderma with joint keratoses (disorder)	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 (disorder)	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 (disorder)	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 (disorder)	Is a	True	Inherited disorder of keratinisation	Inferred relationship	Some
Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome (disorder)	Is a	True	Inherited disorder of keratinisation	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

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
5833401000172117	affection héréditaire de la kératinisation	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5053681000172114	erfelijke verhoorningsstoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5053691000172112	hereditaire keratinisatiestoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)