OMOP Concept 36717524
MEDNIK syndrome
StandardConditionSNOMED722035007Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to MEDNIK syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C563739 | Erythrokeratodermia Variabilis 3 | Non-standard |
| Nebraska Lexicon | 722035007 | Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Non-standard |
Synonyms
Alternative names recorded for MEDNIK syndrome across source vocabularies.
- eritroqueratodermia variable tipo 3
- Erythrokeratodermia variabilis 3
- Erythrokeratodermia variabilis Kamouraska type
- Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome
- Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
- MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) syndrome
- síndrome de discapacidad intelectual, enteropatía, sordera, neuropatía periférica, ictiosis y queratodermia
- síndrome de discapacidad intelectual, enteropatía, sordera, neuropatía periférica, ictiosis y queratodermia (trastorno)
- síndrome MEDNIK
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(54)Roll up to these when you need a wider cohort.
- 1Auditory system hereditary disorder
- 1Autosomal recessive ichthyosis
- 1Congenital keratoderma
- 1Hearing loss associated with syndrome
- 1Intellectual disability
- 1Sensorineural hearing loss
- 2Autosomal recessive hereditary disorder
- 2Behavior finding
- 2Congenital disease
- 2Congenital ichthyosis of skin
- 2Disorder involving the integument of fetus OR newborn
- 2Disorder of auditory system
- 2Erythrokeratoderma
- 2Hearing loss
- 2Hereditary disorder by system
- 2Impaired cognition
- 2Intellectual ability - finding
- 2Keratoderma
- 2Neurodevelopmental disorder
- 2Rough skin
- 3Abnormal keratinization
- 3Autosomal hereditary disorder
- 3Cognitive function finding
- 3Developmental disorder
- 3Developmental hereditary disorder
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