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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Rough skin (finding)\Congenital keratoderma\MEDNIK syndrome
• \Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Disorder of skin (disorder)\Keratoderma (disorder)\Congenital keratoderma\MEDNIK syndrome
• \Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\MEDNIK syndrome
• \General finding of soft tissue\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \General finding of soft tissue\Skin finding\Rough skin (finding)\Congenital keratoderma\MEDNIK syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma (disorder)\Congenital keratoderma\MEDNIK syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Congenital keratoderma\MEDNIK syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\MEDNIK syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\MEDNIK syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\MEDNIK syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\MEDNIK syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\MEDNIK syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\MEDNIK syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\MEDNIK syndrome
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\MEDNIK syndrome
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\MEDNIK syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\MEDNIK syndrome
• \Functional finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Functional finding\Abnormal keratinization\Rough skin (finding)\Congenital keratoderma\MEDNIK syndrome
• \Functional finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Erythrokeratoderma\Congenital keratoderma\MEDNIK syndrome
• \Functional finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Erythrokeratoderma\Congenital keratoderma\MEDNIK syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Erythrokeratoderma\Congenital keratoderma\MEDNIK syndrome
• \Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital keratoderma\MEDNIK syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Congenital keratoderma\MEDNIK syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Integumentary system finding\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Integumentary system finding\Skin finding\Rough skin (finding)\Congenital keratoderma\MEDNIK syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma (disorder)\Congenital keratoderma\MEDNIK syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital keratoderma\MEDNIK syndrome
• \Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Erythrokeratoderma\Congenital keratoderma\MEDNIK syndrome
• \Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Erythrokeratoderma\Congenital keratoderma\MEDNIK syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\MEDNIK syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital keratoderma\MEDNIK syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital keratoderma\MEDNIK syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Erythrokeratoderma\Congenital keratoderma\MEDNIK syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\MEDNIK syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\MEDNIK syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\MEDNIK syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\MEDNIK syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Erythrokeratoderma\Congenital keratoderma\MEDNIK syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Erythrokeratoderma\Congenital keratoderma\MEDNIK syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital keratoderma\MEDNIK syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Congenital keratoderma\MEDNIK syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Disease\Keratosis (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Disease\Keratosis (disorder)\Keratoderma (disorder)\Congenital keratoderma\MEDNIK syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Congenital keratoderma\MEDNIK syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\MEDNIK syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\MEDNIK syndrome

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
5402785016	A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402786015	A rare disorder of copper metabolism characterised by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3325363012	Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character case insensitive (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
5402785016	A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402786015	A rare disorder of copper metabolism characterised by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3384661001000117	MEDNIK-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6326451000241116	syndrome de MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6326461000241118	syndrome de déficience intellectuelle, entéropathie, surdité, neuropathie périphérique, ichtyose et kératodermie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6326471000241114	EKV3 - érythrokératodermie variable de type 3	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6326451000241116	syndrome de MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6326461000241118	syndrome de déficience intellectuelle, entéropathie, surdité, neuropathie périphérique, ichtyose et kératodermie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6326471000241114	EKV3 - érythrokératodermie variable de type 3	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3384661001000117	MEDNIK-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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