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254215005: Erythrokeratoderma (disorder)

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

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

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

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

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

378441011 Erythrokeratoderma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

645076019 Erythrokeratoderma (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2019861000005114 Erytrokeratoderma da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Erythrokeratoderma	Is a	Inherited disorder of keratinization	true	Inferred relationship	Some
Erythrokeratoderma	Finding site	Skin structure	false	Inferred relationship	Some	1
Erythrokeratoderma	Occurrence	Congenital	false	Inferred relationship	Some
Erythrokeratoderma	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Erythrokeratoderma	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
Erythrokeratoderma	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Erythrokeratoderma	Finding site	Skin structure	false	Inferred relationship	Some	1
Erythrokeratoderma	Occurrence	Congenital	false	Inferred relationship	Some	2
Erythrokeratoderma	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Erythrokeratoderma	Finding site	Skin structure	false	Inferred relationship	Some	2
Erythrokeratoderma	Finding site	Structure of integumentary system (body structure)	false	Inferred relationship	Some
Erythrokeratoderma	Has interpretation	Abnormal	true	Inferred relationship	Some	1
Erythrokeratoderma	Interprets	Keratinization	true	Inferred relationship	Some	1
Erythrokeratoderma	Finding site	Structure of integumentary system (body structure)	true	Inferred relationship	Some	2
Erythrokeratoderma	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Erythrokeratoderma progressiva of Gottron (disorder)	Is a	True	Erythrokeratoderma	Inferred relationship	Some
Congenital keratoderma	Is a	True	Erythrokeratoderma	Inferred relationship	Some
Erythrokeratodermia variabilis	Is a	False	Erythrokeratoderma	Inferred relationship	Some
Erythrokeratoderma en cocardes	Is a	True	Erythrokeratoderma	Inferred relationship	Some
Ichthyosiform erythroderma	Is a	True	Erythrokeratoderma	Inferred relationship	Some
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.	Is a	True	Erythrokeratoderma	Inferred relationship	Some
A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.	Is a	False	Erythrokeratoderma	Inferred relationship	Some
A syndromic genetic deafness with characteristics of erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.	Is a	True	Erythrokeratoderma	Inferred relationship	Some
Mutilating keratoderma	Is a	True	Erythrokeratoderma	Inferred relationship	Some
Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.	Is a	True	Erythrokeratoderma	Inferred relationship	Some

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
378441011	Erythrokeratoderma	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645076019	Erythrokeratoderma (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2019861000005114	Erytrokeratoderma	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)