722035007: Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

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

\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Rough skin (finding)\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)

\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\affection de la peau (trouble)\Keratoderma\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)

\constatation générale à propos des tissus mous\Skin finding\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\Rough skin (finding)\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Keratoderma\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (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)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (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)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (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\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (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)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)

\constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)

\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\constatation fonctionnelle\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\constatation fonctionnelle\Abnormal keratinisation\Rough skin (finding)\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\constatation fonctionnelle\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\constatation fonctionnelle\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (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)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (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)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Integumentary system finding\Skin finding\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Integumentary system finding\Skin finding\Rough skin (finding)\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Keratoderma\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Integumentary system finding\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Integumentary system finding\Abnormal keratinisation\Rough skin (finding)\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (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)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (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)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (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)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (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\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (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)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\kératose\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\kératose\Keratoderma\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\Congenital disease\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (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)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Congenital keratoderma\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (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)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3325363012 Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330261017 Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330262012 MEDNIK syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3330263019 MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3330264013 Erythrokeratodermia variabilis 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330265014 Erythrokeratodermia variabilis Kamouraska type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3325371011 MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), has characteristics of intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis and keratodermia. The syndrome has been described in four families descending from limited number of ancestors in Quebec. The disease is due to a mutation in the AP1S1 gene encoding the small subunit sigma1A of the AP-1 complex. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	morphologie associée (attribut)	Hyperkeratosis	true	Inferred relationship	Some	1
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	localisation d'une constatation (attribut)	Entire skin	true	Inferred relationship	Some	1
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	interprète (attribut)	Hearing, function (observable entity)	true	Inferred relationship	Some	3
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	localisation d'une constatation (attribut)	structure du système auditif	true	Inferred relationship	Some	4
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	est un(e) (attribut)	Congenital hearing disorder	false	Inferred relationship	Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	est un(e) (attribut)	Erythrokeratodermia variabilis	false	Inferred relationship	Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	est un(e) (attribut)	Congenital keratoderma	true	Inferred relationship	Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	est un(e) (attribut)	Sensorineural hearing loss	true	Inferred relationship	Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	a pour interprétation (attribut)	altéré	true	Inferred relationship	Some	3
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	est un(e) (attribut)	Mental retardation	false	Inferred relationship	Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	est un(e) (attribut)	Hearing loss associated with syndrome	true	Inferred relationship	Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	est un(e) (attribut)	Erythrokeratoderma	false	Inferred relationship	Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	est un(e) (attribut)	Auditory system hereditary disorder	true	Inferred relationship	Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	est un(e) (attribut)	Autosomal recessive ichthyosis (disorder)	true	Inferred relationship	Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	localisation d'une constatation (attribut)	oreille	false	Inferred relationship	Some	3
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	est défini par la manifestation de (attribut)	Abnormal keratinisation	false	Inferred relationship	Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	4
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	4
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	5
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	5
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	4
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	morphologie associée (attribut)	Hyperkeratosis	false	Inferred relationship	Some	5
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	interprète (attribut)	Keratinization, function (observable entity)	true	Inferred relationship	Some	2
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada French language reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3325363012	Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330261017	Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330262012	MEDNIK syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330263019	MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330264013	Erythrokeratodermia variabilis 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330265014	Erythrokeratodermia variabilis Kamouraska type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3325371011	MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), has characteristics of intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis and keratodermia. The syndrome has been described in four families descending from limited number of ancestors in Quebec. The disease is due to a mutation in the AP1S1 gene encoding the small subunit sigma1A of the AP-1 complex. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core