72523005: X-linked ichthyosis with steryl-sulfatase deficiency (disorder)

SNOMED CT Concept\constatation clinique\...

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

\Rough skin (finding)\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency

\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency
\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency

\constatation générale à propos des tissus mous\Skin finding\Rough skin (finding)\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency
\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\X-linked ichthyosis with steryl-sulfatase deficiency
\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\X-linked ichthyosis with steryl-sulfatase deficiency

\constatation fonctionnelle\Abnormal keratinisation\...

\Rough skin (finding)\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency

\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency

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

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency
\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\X-linked ichthyosis with steryl-sulfatase deficiency
\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\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\kératose\Keratoderma\Ichthyosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\trouble métabolique\Inborn error of metabolism\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\trouble métabolique\Enzymopathy\Deficiency of steryl-sulphatase\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\Congenital disease\Inborn error of metabolism\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency
\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\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\trouble du développement\Developmental hereditary disorder\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency

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
X-linked ichthyosis with steryl-sulfatase deficiency	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked ichthyosis with steryl-sulfatase deficiency	survenue (attribut)	congénital	true	Inferred relationship	Some	1
X-linked ichthyosis with steryl-sulfatase deficiency	morphologie associée (attribut)	Hyperkeratosis	true	Inferred relationship	Some	1
X-linked ichthyosis with steryl-sulfatase deficiency	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	2
X-linked ichthyosis with steryl-sulfatase deficiency	interprète (attribut)	Keratinization, function (observable entity)	true	Inferred relationship	Some	2
X-linked ichthyosis with steryl-sulfatase deficiency	localisation d'une constatation (attribut)	Entire skin	true	Inferred relationship	Some	1
X-linked ichthyosis with steryl-sulfatase deficiency	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked ichthyosis with steryl-sulfatase deficiency	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
X-linked ichthyosis with steryl-sulfatase deficiency	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
X-linked ichthyosis with steryl-sulfatase deficiency	est un(e) (attribut)	ichtyose congénitale	true	Inferred relationship	Some
X-linked ichthyosis with steryl-sulfatase deficiency	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
X-linked ichthyosis with steryl-sulfatase deficiency	est un(e) (attribut)	Inborn error of metabolism	true	Inferred relationship	Some
X-linked ichthyosis with steryl-sulfatase deficiency	est un(e) (attribut)	Deficiency of steryl-sulphatase	true	Inferred relationship	Some
X-linked ichthyosis with steryl-sulfatase deficiency	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
X-linked ichthyosis with steryl-sulfatase deficiency	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
X-linked ichthyosis with steryl-sulfatase deficiency	survenue (attribut)	congénital	false	Inferred relationship	Some	2
X-linked ichthyosis with steryl-sulfatase deficiency	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
X-linked ichthyosis with steryl-sulfatase deficiency	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
X-linked ichthyosis with steryl-sulfatase deficiency	survenue (attribut)	congénital	false	Inferred relationship	Some
X-linked ichthyosis with steryl-sulfatase deficiency	morphologie associée (attribut)	Hyperkeratosis	false	Inferred relationship	Some
X-linked ichthyosis with steryl-sulfatase deficiency	localisation d'une constatation (attribut)	Structure of skin region	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Syndromic recessive X-linked ichthyosis (disorder)	est un(e) (attribut)	True	X-linked ichthyosis with steryl-sulfatase deficiency	Inferred relationship	Some

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
120467017	Sex-linked ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
200289014	X-linked ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
200290017	X-linked ichthyosis with steryl-sulfatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
502147010	X-linked ichthyosis with steryl-sulphatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
812810018	X-linked ichthyosis with steryl-sulfatase deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core