403779009: syndroom van ichthyosis, cerebellaire degeneratie en hepatosplenomegalie (aandoening)

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)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\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)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\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\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)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\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\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\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\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)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\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\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)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\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\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\Hereditary disorder of the integument\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\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (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 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\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\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\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)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\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\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)
\Disease\Keratosis\Keratoderma\Ichthyosis\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)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\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\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)
\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 (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	Some
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Finding site	Structure of skin region	false	Inferred relationship	Some
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Interprets	Keratinization	true	Inferred relationship	Some	2
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Finding site	Entire skin	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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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
6870691000146114	syndroom van ichthyosis, cerebellaire degeneratie en hepatosplenomegalie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6870701000146114	syndroom van vissenhuid, splenohepatomegalie en cerebellaire degeneratie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6870711000146111	syndroom van ichthyosis, cerebellaire degeneratie en hepatosplenomegalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)