403779009: Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Rough skin\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly

\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly

\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\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\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\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\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly

\Functional finding\Abnormal keratinization\...

\Rough skin\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly

\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Integumentary system finding\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\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\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Integumentary system finding\Abnormal keratinization\Rough skin\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Integumentary system finding\Abnormal keratinization\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\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\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2003. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

1771705017 Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1782789018 Ichthyosis, cerebellar degeneration and hepatosplenomegaly en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ichthyosis, cerebellar degeneration and hepatosplenomegaly	Is a	Cutaneous syndrome with ichthyosis	true	Inferred relationship	Existential restriction modifier
Ichthyosis, cerebellar degeneration and hepatosplenomegaly	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Ichthyosis, cerebellar degeneration and hepatosplenomegaly	Finding site	Structure of skin region	false	Inferred relationship	Existential restriction modifier
Ichthyosis, cerebellar degeneration and hepatosplenomegaly	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Ichthyosis, cerebellar degeneration and hepatosplenomegaly	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Ichthyosis, cerebellar degeneration and hepatosplenomegaly	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Ichthyosis, cerebellar degeneration and hepatosplenomegaly	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly	Interprets	Keratinization, function	true	Inferred relationship	Existential restriction modifier	2
Ichthyosis, cerebellar degeneration and hepatosplenomegaly	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	2
Ichthyosis, cerebellar degeneration and hepatosplenomegaly	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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1771705017	Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1782789018	Ichthyosis, cerebellar degeneration and hepatosplenomegaly	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module