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The ICD coding for rare diseases is the International Classification of Diseases code used for the purpose of documenting rare diseases. It is important for health insurance reimbursement, administration, epidemiology, and research. Of the approximately 7,000 rare diseases, only about 500 have a specific code.
1 in 25,000–33,000 worldwide [ 2] Antisynthetase syndrome (ASS) is a multisystematic autoimmune disease associated with inflammatory myositis, interstitial lung disease, and antibodies directed against various synthetases of aminoacyl-transfer RNA. [ 3] Other common symptoms include mechanic's hands, Raynaud's phenomenon, arthritis, and fever.
Cowden syndrome (also known as Cowden's disease and multiple hamartoma syndrome) is an autosomal dominant inherited condition characterized by benign overgrowths called hamartomas as well as an increased lifetime risk of breast, thyroid, uterine, and other cancers. [1] It is often underdiagnosed due to variability in disease presentation, but ...
Orphanet is an organisation and knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks. [ 1 ] Orphanet was founded in France in 1997 by Inserm , the French National Institute of Health and Medical Research.
Barakat syndrome is a rare disease characterized by hypoparathyroidism, sensorineural deafness and renal disease, and hence also known as HDR syndrome. It is an autosomal dominant condition with incomplete penetrance and variable expressivity [2] that was first described by Amin J. Barakat et al. in 1977. [3]
Microvillus inclusion disease has an autosomal recessive pattern of inheritance. Microvillus inclusion disease, previously known as Davidson's disease, congenital microvillus atrophy and, less specifically, microvillus atrophy (note: microvillus is often misspelled as microvillous), is a rare genetic disorder of the small intestine that is ...
Cantú syndrome. Cantú syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly. [ 6][ 5] Less than 50 cases have been described in the literature; they are associated with a mutation in the ABCC9 -gene that codes for the ABCC9-protein. [ 5]
In 2014, a human genetic disorder (Xia-Gibbs syndrome) caused by de novo mutations in AHDC1 was discovered through whole-exome sequencing by Xia, et al. [6] Four patients were identified in the paper which recorded the initial discovery and their clinical features were reported, including global developmental delay, hypotonia, obstructive sleep apnea, intellectual disability and seizures.