70041004: Erythrokeratodermia variabilis (disorder)

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

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

\Rough skin (finding)\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Rough skin (finding)\Congenital keratoderma\Erythrokeratodermia variabilis

\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disorder of skin (disorder)\Keratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Erythrokeratodermia variabilis

\General finding of soft tissue\Skin finding (finding)\Rough skin (finding)\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\General finding of soft tissue\Skin finding (finding)\Rough skin (finding)\Congenital keratoderma\Erythrokeratodermia variabilis
\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Keratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Erythrokeratodermia variabilis

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Rough skin (finding)\Congenital keratoderma\Erythrokeratodermia variabilis

\Disorder of keratinisation\Inherited disorder of keratinization\...

\Erythrokeratoderma\Congenital keratoderma\Erythrokeratodermia variabilis

\Congenital ichthyosis of skin\Erythrokeratodermia variabilis

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital keratoderma\Erythrokeratodermia variabilis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Integumentary system finding\Skin finding (finding)\Rough skin (finding)\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Integumentary system finding\Skin finding (finding)\Rough skin (finding)\Congenital keratoderma\Erythrokeratodermia variabilis
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Keratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital keratoderma\Erythrokeratodermia variabilis
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinization\Congenital ichthyosis of skin\Erythrokeratodermia variabilis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Erythrokeratodermia variabilis
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital keratoderma\Erythrokeratodermia variabilis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital keratoderma\Erythrokeratodermia variabilis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital keratoderma\Erythrokeratodermia variabilis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Keratosis\Keratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Erythrokeratodermia variabilis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Erythrokeratodermia variabilis	Is a	Skin lesion (disorder)	false	Inferred relationship	Some
Erythrokeratodermia variabilis	Is a	Erythrokeratoderma	false	Inferred relationship	Some
Erythrokeratodermia variabilis	Finding site	Skin structure	false	Inferred relationship	Some	1
Erythrokeratodermia variabilis	Occurrence	Congenital	false	Inferred relationship	Some
Erythrokeratodermia variabilis	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Erythrokeratodermia variabilis	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Erythrokeratodermia variabilis	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
Erythrokeratodermia variabilis	Finding site	Skin structure	false	Inferred relationship	Some	2
Erythrokeratodermia variabilis	Finding site	Skin structure	false	Inferred relationship	Some	1
Erythrokeratodermia variabilis	Finding site	Skin structure	false	Inferred relationship	Some	2
Erythrokeratodermia variabilis	Finding site	Skin structure	false	Inferred relationship	Some	1
Erythrokeratodermia variabilis	Finding site	Skin structure	false	Inferred relationship	Some	2
Erythrokeratodermia variabilis	Finding site	Skin structure	false	Inferred relationship	Some	1
Erythrokeratodermia variabilis	Finding site	Skin structure	false	Inferred relationship	Some	2
Erythrokeratodermia variabilis	Finding site	Skin structure	false	Inferred relationship	Some	1
Erythrokeratodermia variabilis	Finding site	Skin structure	false	Inferred relationship	Some	2
Erythrokeratodermia variabilis	Finding site	Skin structure	false	Inferred relationship	Some	1
Erythrokeratodermia variabilis	Finding site	Skin structure	false	Inferred relationship	Some	2
Erythrokeratodermia variabilis	Occurrence	Congenital	false	Inferred relationship	Some	3
Erythrokeratodermia variabilis	Associated morphology	dysgenese	false	Inferred relationship	Some	3
Erythrokeratodermia variabilis	Finding site	Skin structure	false	Inferred relationship	Some	3
Erythrokeratodermia variabilis	Is a	Disorder of skin (disorder)	false	Inferred relationship	Some
Erythrokeratodermia variabilis	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Erythrokeratodermia variabilis	Interprets	Keratinization	true	Inferred relationship	Some	2
Erythrokeratodermia variabilis	Is a	Ichthyosis	false	Inferred relationship	Some
Erythrokeratodermia variabilis	Finding site	Entire skin	true	Inferred relationship	Some	1
Erythrokeratodermia variabilis	Is a	Congenital keratoderma	true	Inferred relationship	Some
Erythrokeratodermia variabilis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Erythrokeratodermia variabilis	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Erythrokeratodermia variabilis	Occurrence	Congenital	true	Inferred relationship	Some	1
Erythrokeratodermia variabilis	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
Erythrokeratodermia variabilis	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Erythrokeratodermia variabilis	Is a	Congenital ichthyosis of skin	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Malignant atrophic papulosis	Is a	False	Erythrokeratodermia variabilis	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	Erythrokeratodermia variabilis	Inferred relationship	Some
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.	Is a	False	Erythrokeratodermia variabilis	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	False	Erythrokeratodermia variabilis	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
116327014	Erythrokeratodermia variabilis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
810054016	Erythrokeratodermia variabilis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1233217010	Congenital poikiloderma	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1233218017	Mendes da Costa syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2002181000005119	Erythrokeratodermia variabilis	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)