34638006: Lamellar ichthyosis AND trichorrhexis invaginata syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

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

\Rough skin (finding)\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome

\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair shaft\trichorrhexie (trouble)\Lamellar ichthyosis AND trichorrhexis invaginata syndrome

\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair shaft\trichorrhexie (trouble)\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome

\constatation générale à propos des tissus mous\Skin finding\Rough skin (finding)\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair shaft\trichorrhexie (trouble)\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair shaft\trichorrhexie (trouble)\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\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\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\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)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair shaft\trichorrhexie (trouble)\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\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\Lamellar ichthyosis AND trichorrhexis invaginata syndrome

\constatation fonctionnelle\Abnormal keratinisation\...

\Rough skin (finding)\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome

\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata 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\Lamellar ichthyosis AND trichorrhexis invaginata 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\trouble de la pilosité\Disorder of hair shaft\trichorrhexie (trouble)\Lamellar ichthyosis AND trichorrhexis invaginata 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\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\Skin finding\Rough skin (finding)\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair shaft\trichorrhexie (trouble)\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair shaft\trichorrhexie (trouble)\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata 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\Lamellar ichthyosis AND trichorrhexis invaginata 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\trouble de la pilosité\Disorder of hair shaft\trichorrhexie (trouble)\Lamellar ichthyosis AND trichorrhexis invaginata 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\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\kératose\Keratoderma\Ichthyosis\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata 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\Lamellar ichthyosis AND trichorrhexis invaginata 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\trouble de la pilosité\Disorder of hair shaft\trichorrhexie (trouble)\Lamellar ichthyosis AND trichorrhexis invaginata 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\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\trouble du développement\Developmental hereditary disorder\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Lamellar ichthyosis AND trichorrhexis invaginata syndrome

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

57806017 Lamellar ichthyosis AND trichorrhexis invaginata syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
57807014 Lamellar ichthyosis and trichorrhexis invaginata syndrome en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
57808016 Netherton's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
766185018 Lamellar ichthyosis AND trichorrhexis invaginata syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	morphologie associée (attribut)	Hyperkeratosis	true	Inferred relationship	Some	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	interprète (attribut)	Keratinization, function (observable entity)	true	Inferred relationship	Some	2
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	2
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	localisation d'une constatation (attribut)	Entire skin	true	Inferred relationship	Some	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	est un(e) (attribut)	Congenital anomaly of hair	false	Inferred relationship	Some
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	est un(e) (attribut)	ichtyose congénitale	true	Inferred relationship	Some
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	est un(e) (attribut)	trichorrhexie (trouble)	true	Inferred relationship	Some
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	localisation d'une constatation (attribut)	Hair shaft structure	true	Inferred relationship	Some	3
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	localisation d'une constatation (attribut)	Structure of skin region	false	Inferred relationship	Some
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	localisation d'une constatation (attribut)	Hair structure	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
57806017	Lamellar ichthyosis AND trichorrhexis invaginata syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
57807014	Lamellar ichthyosis and trichorrhexis invaginata syndrome	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
57808016	Netherton's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
766185018	Lamellar ichthyosis AND trichorrhexis invaginata syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core