Category: <span>Rare diseases</span>

Category: Rare diseases

Sjögren’s Syndrome

Sjögren’s Syndrome Synonym(s) Sicca syndrome ORPHA378 ICD-10 H35.0 UMLS C1527336 MedDRA 10040767 Status Under evaluation What is Sjögren’s syndrome Sjögren’s syndrome is a chronic autoimmune disorder characterized by the triad of dry eyes (keratoconjunctiva sicca), sensation of oral dryness (xerostomia) and/or swelling of the salivary glands secondary to lymphocytic infiltration and destruction of the exocrine …

Sickle cell disease

Sickle Cell Disease Synonym(s) Sickle Cell Anemia ORPHA232 ICD-10 D57.0 D57.1 D57.2 UMLS C0002895 MedDRA 10040641 Status Under evaluation What is sickle cell disease? Sickle cell disease is a genetic disease in which the red blood cells become rigid and sticky, and change from being disc-shaped to being crescent-shaped (like a sickle). The change in …

Retinitis pigmentosa

Retinitis Pigmentosa ORPHA791 ICD-10 H35.5 UMLS C0035334 MedDRA 10038914 Status Under evaluation What is retinitis pigmentosa Retinitis pigmentosa is a group of hereditary diseases of the eye that lead to progressive loss of sight. In patients with retinitis pigmentosa, cells in the retina (the light-sensitive surface at the back of the eye) become damaged …

Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis Synonym(s) Charcot disease, Lou Gehrig disease Synonym(s) Charcot disease, Lou Gehrig disease ORPHA378 ICD-10 G12.2 UMLS C1527336 MedDRA 10040767 Status Under evaluation What is Amyotrophic Lateral Sclerosis? Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem …

Neurotrophic keratitis

Neurotrophic Keratitis Synonym(s) Neurotrophic keratopathy ORPHA137596 ICD-10 H16.2 UMLS C0339296 MedDRA 10069732 Status In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the Committee for Orphan Medicinal Products (COMP) adopted a positive opinion on 13 November 2014 recommending the granting of this designation. What is neurotrophic keratitis? Neurotrophic keratitis is a condition of …