OMOP Concept 37163591
NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
StandardConditionSNOMED1217379007Disorder
Maps from
0
Descendants
0
Valid from
30 Apr 2022
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for NKX6-2-related autosomal recessive hypomyelinating leukodystrophy across source vocabularies.
- Autosomal recessive hypomyelinating leucodystrophy, progressive spastic ataxia
- Autosomal recessive hypomyelinating leukodystrophy, progressive spastic ataxia
- leucodistrofia hipomielinizante autosómica recesiva asociada a gen NK6 homebox
- leucodistrofia hipomielinizante autosómica recesiva asociada a gen NK6 homebox (trastorno)
- leucodistrofia hipomielinizante autosómica recesiva asociada a gen NKX6-2
- leucodistrofia hipomielinizante autosómica recesiva, ataxia espástica progresiva
- NK6 homeobox 2-related autosomal recessive hypomyelinating leucodystrophy
- NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy
- NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder)
- NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
- SPAX8
- SPAX8 - spastic ataxia 8
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(61)Roll up to these when you need a wider cohort.
- 1Abnormal nervous system function
- 1Auditory system hereditary disorder
- 1Autosomal recessive hereditary disorder
- 1Chronic nervous system disorder
- 1Decreased hearing
- 1Developmental hereditary disorder
- 1Genetic intellectual disability
- 1Hereditary ataxia
- 1Hereditary degenerative disease of central nervous system
- 1Hereditary disorder of the visual system
- 1Leukodystrophy
- 1Nerve palsy
- 1Spastic tetraplegia
- 2Ataxia
- 2Autosomal hereditary disorder
- 2Chronic disease
- 2Decline in functional status
- 2Degenerative disease of the central nervous system
- 2Developmental disorder
- 2Disorder of auditory system
- 2Disorder of limb
- 2Disorder of nervous system
- 2Functional finding
- 2Genetic disease
- 2Hearing finding
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