70041004: Erythrokeratodermia variabilis (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Rough skin\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Rough skin\Congenital keratoderma\Erythrokeratodermia variabilis

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

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

\Functional finding\Abnormal keratinization\...

\Rough skin\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Rough skin\Congenital keratoderma\Erythrokeratodermia variabilis

\Disorder of keratinization\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 keratinization\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Integumentary system finding\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Integumentary system finding\Skin finding\Rough skin\Congenital keratoderma\Erythrokeratodermia variabilis
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Integumentary system finding\Abnormal keratinization\Rough skin\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Integumentary system finding\Abnormal keratinization\Rough skin\Congenital keratoderma\Erythrokeratodermia variabilis
\Integumentary system finding\Abnormal keratinization\Disorder of keratinization\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Integumentary system finding\Abnormal keratinization\Disorder of keratinization\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 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 keratinization\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Keratosis\Keratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Congenital disease\Congenital keratoderma\Erythrokeratodermia variabilis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Erythrokeratodermia variabilis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Congenital keratoderma\Erythrokeratodermia variabilis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\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\Congenital ichthyosis of skin\Erythrokeratodermia variabilis

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

Descriptions:

Id Description Lang Type Status Case? Module

116327014 Erythrokeratodermia variabilis en Synonym Active Entire term case insensitive SNOMED CT core module

810054016 Erythrokeratodermia variabilis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1233217010 Congenital poikiloderma en Synonym Active Entire term case insensitive SNOMED CT core module

1233218017 Mendes da Costa syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Malignant atrophic papulosis	Is a	False	Erythrokeratodermia variabilis	Inferred relationship	Existential restriction modifier
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome	Is a	False	Erythrokeratodermia variabilis	Inferred relationship	Existential restriction modifier
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome	Is a	False	Erythrokeratodermia variabilis	Inferred relationship	Existential restriction modifier
Keratoderma hereditarium mutilans with ichthyosis syndrome	Is a	False	Erythrokeratodermia variabilis	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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