403782004: Ichthyosis follicularis with alopecia and photophobia (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 follicularis with alopecia and photophobia (IFAP)

\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)

\General finding of soft tissue\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)
\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 follicularis with alopecia and photophobia (IFAP)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)
\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 follicularis with alopecia and photophobia (IFAP)

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)

\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)
\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 follicularis with alopecia and photophobia (IFAP)
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)
\Integumentary system finding\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)
\Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)

\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 follicularis with alopecia and photophobia (IFAP)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)
\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 follicularis with alopecia and photophobia (IFAP)
\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 follicularis with alopecia and photophobia (IFAP)
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)
\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 follicularis with alopecia and photophobia (IFAP)
\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 follicularis with alopecia and photophobia (IFAP)
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)
\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 follicularis with alopecia and photophobia (IFAP)
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Cutaneous syndrome with ichthyosis\Ichthyosis follicularis with alopecia and photophobia (IFAP)

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 follicularis with alopecia and photophobia (IFAP)	Is a	Cutaneous syndrome with ichthyosis	true	Inferred relationship	Some
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Finding site	Structure of skin region	false	Inferred relationship	Some
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Occurrence	Congenital	false	Inferred relationship	Some
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Finding site	Skin structure	false	Inferred relationship	Some	1
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Finding site	Skin structure	false	Inferred relationship	Some	1
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Occurrence	Congenital	false	Inferred relationship	Some	2
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Finding site	Skin structure	false	Inferred relationship	Some	2
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Occurrence	Congenital	true	Inferred relationship	Some	1
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Interprets	Keratinization	true	Inferred relationship	Some	2
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Finding site	Entire skin	true	Inferred relationship	Some	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
1782792019	Ichthyosis follicularis with alopecia and photophobia (IFAP)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1787871018	IFAP - ichthyosis follicularis with alopecia and photophobia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2914154015	Ichthyosis follicularis with alopecia and photophobia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2914586019	Ichthyosis follicularis with alopecia and photophobia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1865051000052110	ichthyosis follicularis med alopeci och fotofobi (IFAP)	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)