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254215005: Erythrokeratoderma (disorder)

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
966401000172112 erythrokératodermie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3439951001000111 Erythrokeratodermie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

15 descendants. Search Descendants:

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 anomalie congénitale false Inferred relationship Some 1
Erythrokeratoderma Has definitional manifestation Abnormal keratinization false Inferred relationship Some
Erythrokeratoderma Associated morphology anomalie congénitale 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 anomalie du développement 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 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 characterized by 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

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