6874009: Congenital keratoderma (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Rough skin (finding)\Congenital keratoderma

\Disorder of skin (disorder)\Keratoderma\Congenital keratoderma

\General finding of soft tissue\Skin finding\Rough skin (finding)\Congenital keratoderma
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma\Congenital keratoderma
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Congenital keratoderma

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Congenital keratoderma

\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma
\Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital keratoderma
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Congenital keratoderma
\Integumentary system finding\Skin finding\Rough skin (finding)\Congenital keratoderma
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Congenital keratoderma
\Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital keratoderma
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma
\Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital keratoderma
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital keratoderma
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma
\Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital keratoderma
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Congenital keratoderma
\Disease\Keratosis\Keratoderma\Congenital keratoderma
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Congenital keratoderma

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

12370013 Congenital keratoderma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

808609014 Congenital keratoderma (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4411311000241112 kératodermie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital keratoderma	Is a	Erythrokeratoderma	true	Inferred relationship	Some
Congenital keratoderma	Is a	Skin lesion	false	Inferred relationship	Some
Congenital keratoderma	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital keratoderma	Occurrence	Congenital	false	Inferred relationship	Some
Congenital keratoderma	Associated morphology	Hyperkeratosis	false	Inferred relationship	Some	1
Congenital keratoderma	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
Congenital keratoderma	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Congenital keratoderma	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital keratoderma	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital keratoderma	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital keratoderma	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital keratoderma	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital keratoderma	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital keratoderma	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital keratoderma	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital keratoderma	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital keratoderma	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital keratoderma	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital keratoderma	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital keratoderma	Finding site	Skin structure	false	Inferred relationship	Some	3
Congenital keratoderma	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Congenital keratoderma	Occurrence	Congenital	true	Inferred relationship	Some	4
Congenital keratoderma	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	4
Congenital keratoderma	Finding site	Skin structure	true	Inferred relationship	Some	4
Congenital keratoderma	Is a	Keratoderma	true	Inferred relationship	Some
Congenital keratoderma	Is a	Congenital disease	true	Inferred relationship	Some
Congenital keratoderma	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Congenital keratoderma	Interprets	Keratinization	true	Inferred relationship	Some	2
Congenital keratoderma	Is a	Keratosis	false	Inferred relationship	Some
Congenital keratoderma	Is a	Rough skin (finding)	true	Inferred relationship	Some
Congenital keratoderma	Is a	Fetal and/or neonatal disorder of integument	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A hereditary palmoplantar keratoderma with characteristics of the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.	Is a	False	Congenital keratoderma	Inferred relationship	Some
Mutilating keratoderma	Is a	False	Congenital keratoderma	Inferred relationship	Some
Keratosis palmaris et plantaris	Is a	False	Congenital keratoderma	Inferred relationship	Some
Diffuse palmoplantar keratoderma	Is a	False	Congenital keratoderma	Inferred relationship	Some
Keratoderma areata	Is a	False	Congenital keratoderma	Inferred relationship	Some
Keratoderma with pachyonychia congenita	Is a	False	Congenital keratoderma	Inferred relationship	Some
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder)	Is a	True	Congenital keratoderma	Inferred relationship	Some
Keratoderma with mental retardation and spastic paraplegia	Is a	False	Congenital keratoderma	Inferred relationship	Some
Keratoderma punctata	Is a	False	Congenital keratoderma	Inferred relationship	Some
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma.	Is a	False	Congenital keratoderma	Inferred relationship	Some
Erythrokeratodermia variabilis	Is a	True	Congenital keratoderma	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	True	Congenital keratoderma	Inferred relationship	Some
A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.	Is a	True	Congenital keratoderma	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
12370013	Congenital keratoderma	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
808609014	Congenital keratoderma (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4411311000241112	kératodermie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module