OMOP Concept 1076367
CLCN6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome
StandardConditionSNOMED1340172003Disorder
Maps from
0
Descendants
0
Valid from
1 Jul 2024
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for CLCN6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome across source vocabularies.
- Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome
- Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder)
- síndrome de neuropatía periférica y neurodegeneración progresiva de inicio en infancia asociado al gen CLCN6
- síndrome de neuropatía periférica y neurodegeneración progresiva de inicio en infancia asociado al gen CLCN6 (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(34)Roll up to these when you need a wider cohort.
- 1Autosomal dominant hereditary disorder
- 1Chronic disease of musculoskeletal system
- 1Chronic nervous system disorder
- 1Developmental hereditary disorder
- 1Global developmental delay
- 1Hereditary degenerative disease of central nervous system
- 1Hereditary disorder of musculoskeletal system
- 1Myoneural disorder
- 1Poor muscle tone
- 2Autosomal hereditary disorder
- 2Chronic disease
- 2Degenerative disease of the central nervous system
- 2Developmental delay
- 2Developmental disorder
- 2Disorder of musculoskeletal system
- 2Disorder of nervous system
- 2Disorder of skeletal muscle
- 2Disorder of the peripheral nervous system
- 2Finding of muscle tone
- 2General finding of soft tissue
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Hereditary disorder of nervous system
- 2Musculoskeletal finding
- 3Clinical finding
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