402770002: Autosomal dominant ichthyosis (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Rough skin\Congenital ichthyosis of skin\Autosomal dominant ichthyosis

\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis

\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal dominant ichthyosis
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis
\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\Autosomal dominant ichthyosis
\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\Autosomal dominant ichthyosis

\Functional finding\Abnormal keratinization\...

\Rough skin\Congenital ichthyosis of skin\Autosomal dominant ichthyosis

\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal dominant ichthyosis

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal dominant ichthyosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal dominant ichthyosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant ichthyosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal dominant ichthyosis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal dominant ichthyosis
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal dominant ichthyosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis
\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\Autosomal dominant ichthyosis
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal dominant ichthyosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

1770694011 Autosomal dominant ichthyosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1781864017 Autosomal dominant ichthyosis en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant ichthyosis	Is a	Congenital ichthyosis of skin	true	Inferred relationship	Existential restriction modifier
Autosomal dominant ichthyosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Autosomal dominant ichthyosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Autosomal dominant ichthyosis	Finding site	Structure of skin region	false	Inferred relationship	Existential restriction modifier
Autosomal dominant ichthyosis	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Autosomal dominant ichthyosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Autosomal dominant ichthyosis	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Autosomal dominant ichthyosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant ichthyosis	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant ichthyosis	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant ichthyosis	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal dominant ichthyosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant ichthyosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant ichthyosis	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant ichthyosis	Interprets	Keratinization, function	true	Inferred relationship	Existential restriction modifier	2
Autosomal dominant ichthyosis	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	2
Autosomal dominant ichthyosis	Finding site	Entire skin	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ichthyosis hystrix	Is a	False	Autosomal dominant ichthyosis	Inferred relationship	Existential restriction modifier
Curly hair, acral keratoderma, caries syndrome	Is a	False	Autosomal dominant ichthyosis	Inferred relationship	Existential restriction modifier
Palmoplantar keratoderma with clinodactyly syndrome	Is a	False	Autosomal dominant ichthyosis	Inferred relationship	Existential restriction modifier
Autosomal dominant ichthyosis vulgaris	Is a	True	Autosomal dominant ichthyosis	Inferred relationship	Existential restriction modifier
Autosomal dominant lamellar ichthyosis	Is a	True	Autosomal dominant ichthyosis	Inferred relationship	Existential restriction modifier
Keratoderma hereditarium mutilans with ichthyosis syndrome	Is a	True	Autosomal dominant ichthyosis	Inferred relationship	Existential restriction modifier
Bullous ichthyosiform erythroderma	Is a	True	Autosomal dominant ichthyosis	Inferred relationship	Existential restriction modifier
Senter syndrome	Is a	True	Autosomal dominant ichthyosis	Inferred relationship	Existential restriction modifier
Ichthyosis hystrix gravior	Is a	True	Autosomal dominant ichthyosis	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1770694011	Autosomal dominant ichthyosis (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1781864017	Autosomal dominant ichthyosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module