890235002: Autosomal recessive epidermolytic ichthyosis (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Rough skin\Congenital ichthyosis of skin\...

\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis

\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis

\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis

\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\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\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\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\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\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\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\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\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis

\Functional finding\Abnormal keratinization\...

\Rough skin\Congenital ichthyosis of skin\...

\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis

\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis

\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\...

\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis

\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Integumentary system finding\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Integumentary system finding\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\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\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\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\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Integumentary system finding\Abnormal keratinization\Rough skin\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Integumentary system finding\Abnormal keratinization\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Integumentary system finding\Abnormal keratinization\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Integumentary system finding\Abnormal keratinization\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\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\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\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\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis\Autosomal recessive epidermolytic ichthyosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive epidermolytic ichthyosis

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4011667017 Autosomal recessive epidermolytic ichthyosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4011668010 Autosomal recessive epidermolytic ichthyosis en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive epidermolytic ichthyosis	Is a	Autosomal recessive ichthyosis	true	Inferred relationship	Existential restriction modifier
Autosomal recessive epidermolytic ichthyosis	Is a	Keratinopathic ichthyosis	true	Inferred relationship	Existential restriction modifier
Autosomal recessive epidermolytic ichthyosis	Finding site	Entire skin	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive epidermolytic ichthyosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive epidermolytic ichthyosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive epidermolytic ichthyosis	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive epidermolytic ichthyosis	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive epidermolytic ichthyosis	Interprets	Keratinization, function	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets