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312514006: Netherton's syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

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

\Rough skin (finding)\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome

\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\affection de la peau (trouble)\Disorder of skin appendage\Netherton's syndrome
\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome

\constatation fonctionnelle\Abnormal keratinisation\...

\Rough skin (finding)\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome

\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\Netherton's syndrome
\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\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\Skin finding\Rough skin (finding)\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\Netherton's syndrome
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\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\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\Netherton's syndrome
\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\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\kératose\Keratoderma\Ichthyosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\Netherton's syndrome
\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\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\trouble du développement\Developmental hereditary disorder\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Cutaneous syndrome with ichthyosis\Netherton's syndrome

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
Netherton's syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Netherton's syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Netherton's syndrome	morphologie associée (attribut)	Hyperkeratosis	true	Inferred relationship	Some	1
Netherton's syndrome	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	3
Netherton's syndrome	interprète (attribut)	Keratinization, function (observable entity)	true	Inferred relationship	Some	3
Netherton's syndrome	localisation d'une constatation (attribut)	Entire skin	true	Inferred relationship	Some	1
Netherton's syndrome	est un(e) (attribut)	Cutaneous syndrome with ichthyosis	true	Inferred relationship	Some
Netherton's syndrome	est un(e) (attribut)	Disorder of skin appendage	true	Inferred relationship	Some
Netherton's syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Netherton's syndrome	est un(e) (attribut)	Site-specific disorder of skin	false	Inferred relationship	Some
Netherton's syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Netherton's syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Netherton's syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Netherton's syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Netherton's syndrome	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Netherton's syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Netherton's syndrome	localisation d'une constatation (attribut)	Hair appendage structure	true	Inferred relationship	Some	2
Netherton's syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some
Netherton's syndrome	localisation d'une constatation (attribut)	Structure of skin region	false	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
456246014	Netherton's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
456247017	Comel-Netherton syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
456248010	Axial osteosclerosis with bamboo hair	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
456250019	Netherton syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
606161000241111	syndrome de Netherton (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
709191013	Netherton's syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
912611000172112	syndrome de Netherton	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
948151000172112	NS - netherton syndrome	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)