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Start free with EleplanAutosomal recessive secondary erythrocytosis not associated with VHL gene
ORPHA:247378Disease
Also called Autosomal recessive secondary erythrocytosis, non-Chuvash type · Autosomal recessive secondary erythrocytosis not associated with von Hippel-Lindau gene · Autosomal recessive secondary polycythemia, non-Chuvash type · Autosomal recessive secondary polycythemia not associated with von Hippel-Lindau gene · Autosomal recessive secondary polycythemia not associated with VHL gene
What it is
A rare, hereditary, hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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