402772005: Autosomal recessive ichthyosis (disorder)

SNOMED CT Concept\constatation clinique\...

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

\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)

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

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

\constatation fonctionnelle\Abnormal keratinisation\...

\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)

\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)
\Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)
\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 recessive ichthyosis (disorder)
\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 recessive ichthyosis (disorder)
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)
\Integumentary system finding\Skin finding\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)
\Integumentary system finding\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)
\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 recessive ichthyosis (disorder)
\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 recessive ichthyosis (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)
\Disease\kératose\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)
\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 recessive ichthyosis (disorder)
\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 recessive ichthyosis (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1770696013 Autosomal recessive ichthyosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1781866015 Autosomal recessive ichthyosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive ichthyosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive ichthyosis (disorder)	morphologie associée (attribut)	Hyperkeratosis	true	Inferred relationship	Some	1
Autosomal recessive ichthyosis (disorder)	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	2
Autosomal recessive ichthyosis (disorder)	interprète (attribut)	Keratinization, function (observable entity)	true	Inferred relationship	Some	2
Autosomal recessive ichthyosis (disorder)	localisation d'une constatation (attribut)	Entire skin	true	Inferred relationship	Some	1
Autosomal recessive ichthyosis (disorder)	est un(e) (attribut)	ichtyose congénitale	true	Inferred relationship	Some
Autosomal recessive ichthyosis (disorder)	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Autosomal recessive ichthyosis (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
Autosomal recessive ichthyosis (disorder)	localisation d'une constatation (attribut)	Structure of skin region	false	Inferred relationship	Some
Autosomal recessive ichthyosis (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Autosomal recessive ichthyosis (disorder)	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Autosomal recessive ichthyosis (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Autosomal recessive ichthyosis (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Autosomal recessive ichthyosis (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Autosomal recessive ichthyosis (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Autosomal recessive ichthyosis (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive ichthyosis (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ichthyosis linearis circumflexa (disorder)	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Harlequin ichthyosis	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome	est un(e) (attribut)	False	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Ichthyosis prematurity syndrome	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Neu-Laxova syndrome	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Autosomal recessive epidermolytic ichthyosis (disorder)	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Hereditary skin peeling syndrome (disorder)	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Self-healing collodion baby (disorder)	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder)	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Congenital ichthyosis with hypotrichosis syndrome (disorder)	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Bathing suit ichthyosis (disorder)	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Ichthyosis, oral and digital anomalies syndrome	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Congenital cataract ichthyosis syndrome	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder)	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Autosomal recessive exfoliative ichthyosis (disorder)	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	Inferred relationship	Some
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder)	est un(e) (attribut)	True	Autosomal recessive ichthyosis (disorder)	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
1770696013	Autosomal recessive ichthyosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1781866015	Autosomal recessive ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core