763768001: Autosomal recessive exfoliative ichthyosis (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive exfoliative ichthyosis

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

\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive exfoliative ichthyosis
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive exfoliative 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 exfoliative 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 exfoliative 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 exfoliative ichthyosis

\Functional finding\Abnormal keratinization\...

\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive exfoliative ichthyosis

\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive exfoliative 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 exfoliative ichthyosis
\Integumentary system finding\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive exfoliative 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 exfoliative 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 exfoliative 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 exfoliative ichthyosis
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive exfoliative ichthyosis
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive exfoliative ichthyosis
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive exfoliative ichthyosis
\Integumentary system finding\Abnormal keratinization\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive exfoliative ichthyosis
\Integumentary system finding\Abnormal keratinization\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive exfoliative 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 exfoliative ichthyosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive exfoliative ichthyosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis\Autosomal recessive exfoliative 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 exfoliative 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 exfoliative 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 exfoliative 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 exfoliative 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 exfoliative 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 exfoliative ichthyosis
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive exfoliative ichthyosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive exfoliative 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 exfoliative 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 exfoliative ichthyosis
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive exfoliative ichthyosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Autosomal recessive exfoliative ichthyosis

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3643764019 Autosomal recessive exfoliative ichthyosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3643765018 Ichthyosis exfoliativa en Synonym Active Entire term case insensitive SNOMED CT core module

3643766017 Autosomal recessive exfoliative ichthyosis en Synonym Active Entire term case insensitive SNOMED CT core module

3643767014 Exfoliative 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 exfoliative ichthyosis	Is a	Autosomal recessive ichthyosis	true	Inferred relationship	Existential restriction modifier
Autosomal recessive exfoliative ichthyosis	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive exfoliative ichthyosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive exfoliative ichthyosis	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive exfoliative ichthyosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive exfoliative ichthyosis	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive exfoliative ichthyosis	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive exfoliative ichthyosis	Interprets	Keratinization, function	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive exfoliative ichthyosis	Finding site	Entire skin	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3643764019	Autosomal recessive exfoliative ichthyosis (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3643765018	Ichthyosis exfoliativa	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3643766017	Autosomal recessive exfoliative ichthyosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3643767014	Exfoliative ichthyosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module