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

\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\General finding of soft tissue\Skin finding\Rough skin\Congenital keratoderma\MEDNIK syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Congenital keratoderma\MEDNIK syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Congenital keratoderma\MEDNIK syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\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\Hearing loss\Hearing loss associated with syndrome\MEDNIK syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\MEDNIK syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\MEDNIK syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\MEDNIK syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\MEDNIK syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\MEDNIK syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\MEDNIK syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\MEDNIK syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\MEDNIK syndrome
\Functional finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\Functional finding\Abnormal keratinisation\Rough skin\Congenital keratoderma\MEDNIK syndrome
\Functional finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Erythrokeratoderma\Congenital keratoderma\MEDNIK syndrome
\Functional finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Erythrokeratoderma\Congenital keratoderma\MEDNIK syndrome
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\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\MEDNIK syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Congenital keratoderma\MEDNIK syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\Integumentary system finding\Skin finding\Rough skin\Congenital keratoderma\MEDNIK syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Congenital keratoderma\MEDNIK syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\Integumentary system finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\Integumentary system finding\Abnormal keratinisation\Rough skin\Congenital keratoderma\MEDNIK syndrome
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Erythrokeratoderma\Congenital keratoderma\MEDNIK syndrome
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Erythrokeratoderma\Congenital keratoderma\MEDNIK syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\MEDNIK syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis\MEDNIK syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Erythrokeratoderma\Congenital keratoderma\MEDNIK syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\Disease\Disorder of body system\Hereditary disorder by system\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\Hearing loss\Hearing loss associated with syndrome\MEDNIK syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\MEDNIK syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Erythrokeratoderma\Congenital keratoderma\MEDNIK syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\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\MEDNIK syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Congenital keratoderma\MEDNIK syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\Disease\Keratosis\Keratoderma\Congenital keratoderma\MEDNIK syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\Disease\Congenital disease\Congenital keratoderma\MEDNIK syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Congenital keratoderma\MEDNIK syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\MEDNIK syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\MEDNIK syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3330261017 Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome en Synonym Active Case insensitive SNOMED CT core

3330262012 MEDNIK syndrome en Synonym Active Case sensitive SNOMED CT core

3330263019 MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) syndrome en Synonym Active Case sensitive SNOMED CT core

3330264013 Erythrokeratodermia variabilis 3 en Synonym Active Case insensitive SNOMED CT core

3330265014 Erythrokeratodermia variabilis Kamouraska type en Synonym Active Initial character case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
MEDNIK syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
MEDNIK syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
MEDNIK syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
MEDNIK syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
MEDNIK syndrome	Finding site	Entire skin	true	Inferred relationship	Some	1
MEDNIK syndrome	Interprets	Hearing	true	Inferred relationship	Some	3
MEDNIK syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	4
MEDNIK syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
MEDNIK syndrome	Is a	Erythrokeratodermia variabilis	false	Inferred relationship	Some
MEDNIK syndrome	Is a	Congenital keratoderma	true	Inferred relationship	Some
MEDNIK syndrome	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
MEDNIK syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
MEDNIK syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
MEDNIK syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
MEDNIK syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
MEDNIK syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
MEDNIK syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
MEDNIK syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
MEDNIK syndrome	Is a	Erythrokeratoderma	false	Inferred relationship	Some
MEDNIK syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
MEDNIK syndrome	Is a	Autosomal recessive ichthyosis	true	Inferred relationship	Some
MEDNIK syndrome	Finding site	Ear structure	false	Inferred relationship	Some	3
MEDNIK syndrome	Has definitional manifestation	Abnormal keratinisation	false	Inferred relationship	Some
MEDNIK syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
MEDNIK syndrome	Finding site	Skin structure	false	Inferred relationship	Some	4
MEDNIK syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
MEDNIK syndrome	Finding site	Skin structure	false	Inferred relationship	Some	5
MEDNIK syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
MEDNIK syndrome	Associated morphology	Hyperkeratosis	false	Inferred relationship	Some	5
MEDNIK syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
MEDNIK syndrome	Interprets	Keratinisation	true	Inferred relationship	Some	2
MEDNIK syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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	Case insensitive	SNOMED CT core
3330261017	Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3330262012	MEDNIK syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3330263019	MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3330264013	Erythrokeratodermia variabilis 3	en	Synonym	Active	Case insensitive	SNOMED CT core
3330265014	Erythrokeratodermia variabilis Kamouraska type	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core