402770002: autosomaal dominante ichthyosis (aandoening)

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

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

\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)

\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)

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

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)

\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (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\Autosomal dominant ichthyosis (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\Autosomal dominant ichthyosis (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\Autosomal dominant ichthyosis (disorder)
\Integumentary system finding\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)
\Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant ichthyosis (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\Autosomal dominant ichthyosis (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\Autosomal dominant ichthyosis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (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\Autosomal dominant ichthyosis (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\Autosomal dominant ichthyosis (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\Autosomal dominant ichthyosis (disorder)
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (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\Autosomal dominant ichthyosis (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\Autosomal dominant ichthyosis (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant ichthyosis (disorder)	Is a	Congenital ichthyosis of skin	true	Inferred relationship	Some
Autosomal dominant ichthyosis (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Autosomal dominant ichthyosis (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal dominant ichthyosis (disorder)	Finding site	Structure of skin region	false	Inferred relationship	Some
Autosomal dominant ichthyosis (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Autosomal dominant ichthyosis (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Autosomal dominant ichthyosis (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Autosomal dominant ichthyosis (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Autosomal dominant ichthyosis (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Autosomal dominant ichthyosis (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Autosomal dominant ichthyosis (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant ichthyosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant ichthyosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal dominant ichthyosis (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Autosomal dominant ichthyosis (disorder)	Interprets	Keratinization	true	Inferred relationship	Some	2
Autosomal dominant ichthyosis (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Autosomal dominant ichthyosis (disorder)	Finding site	Entire skin	true	Inferred relationship	Some	1

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

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 (core metadata concept)	SNOMED CT core
1781864017	Autosomal dominant ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6345601000146112	autosomaal dominante ichtyose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6345621000146116	autosomaal dominante ichthyosis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6585221000146112	autosomaal dominante ichthyosis (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)