254173004: Hystrix ichthyosis with deafness (disorder)

SNOMED CT Concept\constatation clinique\...

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

\Rough skin (finding)\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness

\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness

\constatation générale à propos des tissus mous\Skin finding\Rough skin (finding)\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness

\constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Hystrix ichthyosis with deafness
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hystrix ichthyosis with deafness
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hystrix ichthyosis with deafness

\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hystrix ichthyosis with deafness
\constatation fonctionnelle\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\constatation fonctionnelle\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Integumentary system finding\Skin finding\Rough skin (finding)\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Integumentary system finding\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Hystrix ichthyosis with deafness
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Hystrix ichthyosis with deafness
\Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Hystrix ichthyosis with deafness
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hystrix ichthyosis with deafness
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\kératose\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\trouble du développement\Developmental hereditary disorder\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Ichthyosis hystrix\Hystrix ichthyosis with deafness
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\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:

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hystrix ichthyosis with deafness	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hystrix ichthyosis with deafness	morphologie associée (attribut)	Hyperkeratosis	true	Inferred relationship	Some	1
Hystrix ichthyosis with deafness	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	2
Hystrix ichthyosis with deafness	interprète (attribut)	Keratinization, function (observable entity)	true	Inferred relationship	Some	2
Hystrix ichthyosis with deafness	est un(e) (attribut)	Congenital hearing disorder	false	Inferred relationship	Some
Hystrix ichthyosis with deafness	interprète (attribut)	Hearing, function (observable entity)	true	Inferred relationship	Some	4
Hystrix ichthyosis with deafness	est un(e) (attribut)	perte auditive (trouble)	true	Inferred relationship	Some
Hystrix ichthyosis with deafness	est un(e) (attribut)	Auditory system hereditary disorder	true	Inferred relationship	Some
Hystrix ichthyosis with deafness	localisation d'une constatation (attribut)	structure du système auditif	true	Inferred relationship	Some	3
Hystrix ichthyosis with deafness	localisation d'une constatation (attribut)	Entire skin	true	Inferred relationship	Some	1
Hystrix ichthyosis with deafness	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Hystrix ichthyosis with deafness	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Hystrix ichthyosis with deafness	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Hystrix ichthyosis with deafness	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Hystrix ichthyosis with deafness	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Hystrix ichthyosis with deafness	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Hystrix ichthyosis with deafness	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Hystrix ichthyosis with deafness	localisation d'une constatation (attribut)	Structure of skin region	false	Inferred relationship	Some	2
Hystrix ichthyosis with deafness	morphologie associée (attribut)	Structure showing abnormal deposition of pigment (morphologic abnormality)	false	Inferred relationship	Some	2
Hystrix ichthyosis with deafness	survenue (attribut)	congénital	false	Inferred relationship	Some
Hystrix ichthyosis with deafness	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Hystrix ichthyosis with deafness	est un(e) (attribut)	Ichthyosis hystrix	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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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