254173004: Hystrix ichthyosis with deafness (disorder)

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)\Ichthyosis hystrix\Hystrix ichthyosis with deafness

\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness

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

\fynd som rör öra och hörsel\Disorder of auditory system\Auditory system hereditary disorder\Hystrix ichthyosis with deafness
\fynd som rör öra och hörsel\Disorder of auditory system\Hearing disorder\Hearing loss\Hystrix ichthyosis with deafness
\fynd som rör öra och hörsel\Hearing finding (finding)\Hearing disorder\Hearing loss\Hystrix ichthyosis with deafness

\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Hystrix ichthyosis with deafness
\Functional finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Functional finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness

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

\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)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Hystrix ichthyosis with deafness
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\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)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Hystrix ichthyosis with deafness
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Hystrix ichthyosis with deafness
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hystrix ichthyosis with deafness
\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)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\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\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\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)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\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)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hystrix ichthyosis with deafness	Is a	Ichthyosis hystrix	true	Inferred relationship	Some
Hystrix ichthyosis with deafness	Finding site	Structure of skin region	false	Inferred relationship	Some	2
Hystrix ichthyosis with deafness	Associated morphology	Pigment deposition	false	Inferred relationship	Some	2
Hystrix ichthyosis with deafness	Occurrence	Congenital	false	Inferred relationship	Some
Hystrix ichthyosis with deafness	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Hystrix ichthyosis with deafness	Finding site	Skin structure	false	Inferred relationship	Some	1
Hystrix ichthyosis with deafness	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Hystrix ichthyosis with deafness	Finding site	Skin structure	false	Inferred relationship	Some	1
Hystrix ichthyosis with deafness	Occurrence	Congenital	false	Inferred relationship	Some	2
Hystrix ichthyosis with deafness	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Hystrix ichthyosis with deafness	Finding site	Skin structure	false	Inferred relationship	Some	2
Hystrix ichthyosis with deafness	Occurrence	Congenital	true	Inferred relationship	Some	1
Hystrix ichthyosis with deafness	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hystrix ichthyosis with deafness	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Hystrix ichthyosis with deafness	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Hystrix ichthyosis with deafness	Interprets	Keratinization	true	Inferred relationship	Some	2
Hystrix ichthyosis with deafness	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Hystrix ichthyosis with deafness	Interprets	Hearing	true	Inferred relationship	Some	4
Hystrix ichthyosis with deafness	Is a	Hearing loss	true	Inferred relationship	Some
Hystrix ichthyosis with deafness	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Hystrix ichthyosis with deafness	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	3
Hystrix ichthyosis with deafness	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
378357012	Hystrix ichthyosis with deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378358019	HID - Hystrix ichthyosis with deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
645027013	Hystrix ichthyosis with deafness (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1864901000052114	ichthyosis hystrix med dövhet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)