403779009: Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)

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

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

\Rough skin (finding)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)

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

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

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)

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

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

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

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Is a	Cutaneous syndrome with ichthyosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Finding site	Structure of skin region (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Interprets	Keratinisation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Finding site	Entire skin	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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
1771705017	Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1782789018	Ichthyosis, cerebellar degeneration and hepatosplenomegaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1771705017	Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1771705017	Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1782789018	Ichthyosis, cerebellar degeneration and hepatosplenomegaly	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1782789018	Ichthyosis, cerebellar degeneration and hepatosplenomegaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3452831001000115	Ichthyose - Hepatosplenomegalie - zerebelläre Degeneration	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5264501000241110	ichtyose, dégénérescence cérébelleuse et une hépatosplénomégalie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5264501000241110	ichtyose, dégénérescence cérébelleuse et une hépatosplénomégalie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3452831001000115	Ichthyose - Hepatosplenomegalie - zerebelläre Degeneration	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module