Concept information
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Disease of nervous system
Disease of the central nervous system
Degenerative disease of the central nervous system
Hereditary degenerative disease of central nervous system
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disease
Degenerative disorder
Degenerative disease of the central nervous system
Hereditary degenerative disease of central nervous system
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Genetic disease
Hereditary disease
Autosomal hereditary disorder
Recessive hereditary disorder, NOS
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developmental disorder
Neurodevelopmental disorder
Developmental mental disorder
Intellectual disability
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Disease of cardiovascular system
vascular disease
Vascular disease of the skin
Cutaneous vascular malformation (disorder)
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Disease of cardiovascular system
vascular disease
Vascular disease of the skin
Cutaneous vascular malformation (disorder)
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Vascular sign OR symptom
vascular disease
Vascular disease of the skin
Cutaneous vascular malformation (disorder)
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Skin finding
Disease of skin
Vascular disease of the skin
Cutaneous vascular malformation (disorder)
Preferred term
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Associated morphology
Is a
- 230227009
- 312942003
- 363005004
- 363070008
- 363185004
- 95477007
- Congenital anomaly of optic nerve
- Congenital atrophy of optic nerve (disorder)
- Cutaneous vascular malformation (disorder)
- Hereditary ataxia (disorder)
- Hereditary degenerative disease of central nervous system
- Intellectual disability
- Recessive hereditary disorder, NOS
Occurrence
Pathological process
In other languages
URI
http://www.irandoc.acir/onto/irandoc/726031001
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