716097001: Ichthyosis cheek eyebrow syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Rough skin\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome

\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome

\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\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\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\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\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ichthyosis cheek eyebrow syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ichthyosis cheek eyebrow syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ichthyosis cheek eyebrow syndrome

\Functional finding\Abnormal keratinization\...

\Rough skin\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome

\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\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\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Integumentary system finding\Abnormal keratinization\Rough skin\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Integumentary system finding\Abnormal keratinization\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\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\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ichthyosis cheek eyebrow syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ichthyosis cheek eyebrow syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Ichthyosis cheek eyebrow syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ichthyosis cheek eyebrow syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Ichthyosis cheek eyebrow syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ichthyosis cheek eyebrow syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Ichthyosis vulgaris\Ichthyosis cheek eyebrow syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3304719019 Ichthyosis cheek eyebrow syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3304720013 Ichthyosis cheek eyebrow syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3304721012 Sidransky Feinstein Goodman syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3304722017 ICE (ichthyosis cheek eyebrow) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ichthyosis cheek eyebrow syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Ichthyosis cheek eyebrow syndrome	Is a	Autosomal dominant ichthyosis vulgaris	false	Inferred relationship	Existential restriction modifier
Ichthyosis cheek eyebrow syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Ichthyosis cheek eyebrow syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Ichthyosis cheek eyebrow syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Ichthyosis cheek eyebrow syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Ichthyosis cheek eyebrow syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Ichthyosis cheek eyebrow syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Ichthyosis cheek eyebrow syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Ichthyosis cheek eyebrow syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Ichthyosis cheek eyebrow syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Ichthyosis cheek eyebrow syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Ichthyosis cheek eyebrow syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Ichthyosis cheek eyebrow syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier	1
Ichthyosis cheek eyebrow syndrome	Finding site	Hair follicle structure	false	Inferred relationship	Existential restriction modifier	1
Ichthyosis cheek eyebrow syndrome	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	3
Ichthyosis cheek eyebrow syndrome	Interprets	Keratinization, function	true	Inferred relationship	Existential restriction modifier	3
Ichthyosis cheek eyebrow syndrome	Associated morphology	Follicular hyperkeratosis	false	Inferred relationship	Existential restriction modifier	1
Ichthyosis cheek eyebrow syndrome	Is a	Ichthyosis vulgaris	true	Inferred relationship	Existential restriction modifier
Ichthyosis cheek eyebrow syndrome	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
3304719019	Ichthyosis cheek eyebrow syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3304720013	Ichthyosis cheek eyebrow syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3304721012	Sidransky Feinstein Goodman syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3304722017	ICE (ichthyosis cheek eyebrow) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module