13059002: Congenital ichthyosis of skin (disorder)

SNOMED CT Concept\constatation clinique\...

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

\Rough skin (finding)\ichtyose congénitale

\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale
\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale

\constatation générale à propos des tissus mous\Skin finding\Rough skin (finding)\ichtyose congénitale
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale
\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
\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

\constatation fonctionnelle\Abnormal keratinisation\...

\Rough skin (finding)\ichtyose congénitale

\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale

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

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

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
ichtyose congénitale	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
ichtyose congénitale	morphologie associée (attribut)	Hyperkeratosis	true	Inferred relationship	Some	1
ichtyose congénitale	est un(e) (attribut)	Genodermatosis	true	Inferred relationship	Some
ichtyose congénitale	interprète (attribut)	Keratinization, function (observable entity)	true	Inferred relationship	Some	2
ichtyose congénitale	est un(e) (attribut)	Ichthyosis	true	Inferred relationship	Some
ichtyose congénitale	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	2
ichtyose congénitale	est un(e) (attribut)	Inherited disorder of keratinization	true	Inferred relationship	Some
ichtyose congénitale	localisation d'une constatation (attribut)	Entire skin	true	Inferred relationship	Some	1
ichtyose congénitale	est un(e) (attribut)	Rough skin (finding)	true	Inferred relationship	Some
ichtyose congénitale	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
ichtyose congénitale	est un(e) (attribut)	Congenital anomaly of skin	false	Inferred relationship	Some
ichtyose congénitale	est un(e) (attribut)	Hereditary disorder of the integument	false	Inferred relationship	Some
ichtyose congénitale	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
ichtyose congénitale	est un(e) (attribut)	Site-specific disorder of skin	false	Inferred relationship	Some
ichtyose congénitale	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
ichtyose congénitale	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
ichtyose congénitale	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
ichtyose congénitale	survenue (attribut)	congénital	false	Inferred relationship	Some	2
ichtyose congénitale	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
ichtyose congénitale	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
ichtyose congénitale	survenue (attribut)	congénital	true	Inferred relationship	Some	1
ichtyose congénitale	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
ichtyose congénitale	localisation d'une constatation (attribut)	Structure of skin region	false	Inferred relationship	Some
ichtyose congénitale	survenue (attribut)	congénital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder)	est un(e) (attribut)	False	ichtyose congénitale	Inferred relationship	Some
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome	est un(e) (attribut)	False	ichtyose congénitale	Inferred relationship	Some
Erythrokeratodermia variabilis	est un(e) (attribut)	True	ichtyose congénitale	Inferred relationship	Some
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)	est un(e) (attribut)	True	ichtyose congénitale	Inferred relationship	Some
Dominant congenital ichthyosiform erythroderma	est un(e) (attribut)	False	ichtyose congénitale	Inferred relationship	Some
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	est un(e) (attribut)	True	ichtyose congénitale	Inferred relationship	Some
Follicular ichthyosis	est un(e) (attribut)	True	ichtyose congénitale	Inferred relationship	Some
Autosomal dominant ichthyosis (disorder)	est un(e) (attribut)	True	ichtyose congénitale	Inferred relationship	Some
X-linked recessive ichthyosis (disorder)	est un(e) (attribut)	False	ichtyose congénitale	Inferred relationship	Some
Autosomal recessive ichthyosis (disorder)	est un(e) (attribut)	True	ichtyose congénitale	Inferred relationship	Some
Ichthyosis linearis circumflexa (disorder)	est un(e) (attribut)	False	ichtyose congénitale	Inferred relationship	Some
Harlequin ichthyosis	est un(e) (attribut)	False	ichtyose congénitale	Inferred relationship	Some
ichtyose lamellaire	est un(e) (attribut)	True	ichtyose congénitale	Inferred relationship	Some
Ichthyosis hystrix	est un(e) (attribut)	False	ichtyose congénitale	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	est un(e) (attribut)	True	ichtyose congénitale	Inferred relationship	Some
X-linked ichthyosis with steryl-sulfatase deficiency	est un(e) (attribut)	True	ichtyose congénitale	Inferred relationship	Some
Rud's syndrome	est un(e) (attribut)	True	ichtyose congénitale	Inferred relationship	Some
Ichthyosiform erythroderma	est un(e) (attribut)	False	ichtyose congénitale	Inferred relationship	Some
Congenital ichthyosis, unspecified	est un(e) (attribut)	False	ichtyose congénitale	Inferred relationship	Some
[X]Other congenital ichthyosis	est un(e) (attribut)	False	ichtyose congénitale	Inferred relationship	Some
Ichthyosis congenita with biliary atresia	est un(e) (attribut)	True	ichtyose congénitale	Inferred relationship	Some
Cutaneous syndrome with ichthyosis	est un(e) (attribut)	True	ichtyose congénitale	Inferred relationship	Some
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder)	est un(e) (attribut)	False	ichtyose congénitale	Inferred relationship	Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome	est un(e) (attribut)	True	ichtyose congénitale	Inferred relationship	Some
Keratinopathic ichthyosis (disorder)	est un(e) (attribut)	True	ichtyose congénitale	Inferred relationship	Some
Ichthyosis vulgaris	est un(e) (attribut)	True	ichtyose congénitale	Inferred relationship	Some
Severe ichthyoses	est un(e) (attribut)	True	ichtyose congénitale	Inferred relationship	Some
Non-bullous ichthyosiform erythroderma	est un(e) (attribut)	False	ichtyose congénitale	Inferred relationship	Some
Bullous ichthyosis	est un(e) (attribut)	False	ichtyose congénitale	Inferred relationship	Some
Congenital non bullous ichthyosiform erythroderma	est un(e) (attribut)	True	ichtyose congénitale	Inferred relationship	Some
Ichthyosis prematurity syndrome	est un(e) (attribut)	False	ichtyose congénitale	Inferred relationship	Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	est un(e) (attribut)	True	ichtyose congénitale	Inferred relationship	Some

Reference Sets

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

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
1008421000241117	ichtyose congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
1571000172116	ichtyose congénitale de la peau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
22354012	Congenital ichthyosis of skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22356014	Ichthyosis congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22357017	Congenital ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22358010	Fish scale disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22362016	Fish skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3393654013	ichtyose cutanée congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
395971000241118	ichtyose congénitale de la peau (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
50008421000188114	ichtyose congénitale cutanée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
734885013	Congenital ichthyosis of skin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core