retinitis pigmentosa

Preferred Label : retinitis pigmentosa;

MeSH definition : Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.; Hereditary, progressive degeneration of the retina due to death of ROD PHOTORECEPTORS initially and subsequent death of CONE PHOTORECEPTORS. It is characterized by deposition of pigment in the retina.;

MeSH synonym : tapetoretinal degenerations; retinopathies, pigmentary; pigmentary retinopathies; pigmentary retinopathy; retinopathy, pigmentary; tapetoretinal degeneration;

CISMeF synonym : dystrophy, rod-cone; Cone-Rod dystrophy; cone rod dystrophy; dystrophies, Cone-Rod; dystrophy, Cone-Rod; Cone-Rod degenerations; cone rod degenerations; Cone-Rod degeneration; degeneration, Cone-Rod; degenerations, Cone-Rod; Cone-Rod retinal dystrophy; cone rod retinal dystrophy; Cone-Rod retinal dystrophies; dystrophies, Cone-Rod retinal; dystrophy, Cone-Rod retinal; retinal dystrophies, Cone-Rod; retinal dystrophy, Cone-Rod; retinal Cone-Rod dystrophy; Cone-Rod dystrophies, retinal; Cone-Rod dystrophy, retinal; dystrophies, retinal Cone-Rod; dystrophy, retinal Cone-Rod; retinal cone rod dystrophy; retinal Cone-Rod dystrophies; dystrophies, rod cone; dystrophy, rod cone; dystrophies, rod-cone; degeneration, tapetoretinal; degenerations, tapetoretinal; rod cone dystrophies; rod cone dystrophy; rod-cone dystrophies; rod-cone dystrophy;

MeSH hyponym : Cone-Rod dystrophy 2;

MeSH annotation : note entry term ROD CONE DYSTROPHIES: CONE-ROD DYSTROPHIES is also available;

Wikipedia link : https://en.wikipedia.org/wiki/Retinitis pigmentosa;

Details

Origin ID

D012174;

UMLS CUI

C0035334;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Cone-Rod Dystrophy 2 [NCIt concept]
- Cone-rod dystrophy 2 [OMIM Phenotype]
- Cone-rod dystrophy/cone dystrophy [OMIM phenotypic series]
- Hereditary retinal dystrophy [ICD-10 Sub-category (who)]
- Progressive cone-rod dystrophy (disorder) [SNOMED CT concept]
- Retinitis pigmentosa [OMIM phenotypic series]
- Retinitis pigmentosa, late-adult onset [OMIM Phenotype]
- Retinopathy pigmentosa [PASCAL descriptor]
- Tapetoretinal degeneration [ICD-11 More detail]
- Unc119 lipid-binding chaperone [OMIM Phenotype]
- obsolete Tapetoretinal degeneration [HPO term]
Currated CISMeF NLP mapping
- Cone rod dystrophy [PASCAL descriptor]
- Cone rod dystrophy [ICD-11 More detail]
- Cone rod dystrophy [ORDO Disease]
- Cone-rod dystrophy [MedDRA Preferred Term]
- Cone/cone-rod dystrophy [HPO term]
- Pigmentary retinopathy [HPO term]
- Pigmented retinopathy NOS [MedDRA LLT]
- Retinitis Pigmentosa [NCIt concept]
- Retinitis pigmentosa [PASCAL descriptor]
- Retinitis pigmentosa [MedDRA Preferred Term]
- Retinitis pigmentosa [OMIM Phenotype]
- Retinitis pigmentosa [ORDO Disease]
- Retinitis pigmentosa (disorder) [SNOMED CT concept]
- Retinitis pigmentosa/retinal pigmentary changes [HRDO Sign]
- Rod-cone dystrophy [HPO term]
- cone-rod dystrophy [DO Concept]
- retinitis pigmentosa [Disease (Nov.)]
- retinitis pigmentosa [DO Concept]
- retinitis pigmentosa [SNOMED Notion]
DO Cross reference
- retinitis pigmentosa [DO Concept]
HPO term
- Cone/cone-rod dystrophy [HPO term]
- Pigmentary retinopathy [HPO term]
- Rod-cone dystrophy [HPO term]
Indexing information
- FAM161A protein, human [MeSH Supplementary Concept]
- RP1 protein, human [MeSH Supplementary Concept]
- RP1L1 protein, human [MeSH Supplementary Concept]
- RP2 protein, human [MeSH Supplementary Concept]
- Rp1L1 protein, mouse [MeSH Supplementary Concept]
- SRPX protein, human [MeSH Supplementary Concept]
Manual BTNT mappings - CISMeF
- Retinitis punctata albescens [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Channelopathy due to cyclic nucleotide-gated ion channels [ORDO Disease]
- Inherited retinal disorder [ORDO Disease]
- Retinal ciliopathy due to mutation in the RPGR gene [ORDO Disease]
- Retinal ciliopathy due to mutation in the RPGRIP gene [ORDO Disease]
- Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene [ORDO Disease]
- Syndromic myopia [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
ORDO relation(s)
- Retinitis pigmentosa [ORDO Disease]
Record concept(s)
- retinitis pigmentosa [MeSH concept]
Related MeSH Supplementary Concept(s)
- Cone-Rod dystrophy 1 [MeSH Supplementary Concept]
- Cone-Rod dystrophy 10 [MeSH Supplementary Concept]
- Cone-Rod dystrophy 11 [MeSH Supplementary Concept]
- Cone-Rod dystrophy 12 [MeSH Supplementary Concept]
- Cone-Rod dystrophy 13 [MeSH Supplementary Concept]
- Cone-Rod dystrophy 3 [MeSH Supplementary Concept]
- Cone-Rod dystrophy 5 [MeSH Supplementary Concept]
- Cone-Rod dystrophy 7 [MeSH Supplementary Concept]
- Cone-Rod dystrophy 8 [MeSH Supplementary Concept]
- Cone-Rod dystrophy, X-Linked, 2 [MeSH Supplementary Concept]
- Cone-Rod dystrophy, X-Linked, 3 [MeSH Supplementary Concept]
- Cone-Rod dystrophy, X-Linked, type 1 [MeSH Supplementary Concept]
- Jalili syndrome [MeSH Supplementary Concept]
- Mainzer-Saldino disease [MeSH Supplementary Concept]
- Neuropathy ataxia and retinitis pigmentosa [MeSH Supplementary Concept]
- Oliver-McFarlane syndrome [MeSH Supplementary Concept]
- RHYNS syndrome [MeSH Supplementary Concept]
- Rod-Cone dystrophy, sensorineural deafness, and Fanconi-Type renal dysfunction [MeSH Supplementary Concept]
- Senior-Loken syndrome 4 [MeSH Supplementary Concept]
- aldred syndrome [MeSH Supplementary Concept]
- amaurosis hypertrichosis [MeSH Supplementary Concept]
- bork stender schmidt syndrome [MeSH Supplementary Concept]
- chang davidson carlson syndrome [MeSH Supplementary Concept]
- chromosome Xp11.3 deletion syndrome [MeSH Supplementary Concept]
- cone dystrophy 3 [MeSH Supplementary Concept]
- cone dystrophy 4 [MeSH Supplementary Concept]
- cone dystrophy, X-Linked, 1 [MeSH Supplementary Concept]
- cone dystrophy, x-linked, with tapetal-like sheen [MeSH Supplementary Concept]
- cone rod dystrophy amelogenesis imperfecta [MeSH Supplementary Concept]
- cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness [MeSH Supplementary Concept]
- deafness, cataract, retinitis pigmentosa, and sperm abnormalities [MeSH Supplementary Concept]
- flynn aird syndrome [MeSH Supplementary Concept]
- furukawa takagi nakao syndrome [MeSH Supplementary Concept]
- hardikar syndrome [MeSH Supplementary Concept]
- leber congenital amaurosis 14 [MeSH Supplementary Concept]
- leber congenital amaurosis 3 [MeSH Supplementary Concept]
- light fixation seizure syndrome [MeSH Supplementary Concept]
- meckel syndrome type 1 [MeSH Supplementary Concept]
- mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration [MeSH Supplementary Concept]
- metaphyseal chondrodysplasia with retinitis pigmentosa [MeSH Supplementary Concept]
- microcephaly, retinitis pigmentosa, and sutural cataract [MeSH Supplementary Concept]
- microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen [MeSH Supplementary Concept]
- muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus [MeSH Supplementary Concept]
- newfoundland Rod-Cone dystrophy [MeSH Supplementary Concept]
- oculotrichodysplasia [MeSH Supplementary Concept]
- pallidal degeneration, progressive, with retinitis pigmentosa [MeSH Supplementary Concept]
- peripheral cone dystrophy [MeSH Supplementary Concept]
- polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [MeSH Supplementary Concept]
- posterior column ataxia with retinitis pigmentosa [MeSH Supplementary Concept]
- radioulnar synostosis retinal pigment abnormalities [MeSH Supplementary Concept]
- retinal cone dystrophy 2 [MeSH Supplementary Concept]
- retinal cone dystrophy 3A [MeSH Supplementary Concept]
- retinal cone dystrophy 3B [MeSH Supplementary Concept]
- retinal cone dystrophy 4 [MeSH Supplementary Concept]
- retinitis pigmentosa 1 [MeSH Supplementary Concept]
- retinitis pigmentosa 10 [MeSH Supplementary Concept]
- retinitis pigmentosa 11 [MeSH Supplementary Concept]
- retinitis pigmentosa 12 [MeSH Supplementary Concept]
- retinitis pigmentosa 13 [MeSH Supplementary Concept]
- retinitis pigmentosa 14 [MeSH Supplementary Concept]
- retinitis pigmentosa 17 [MeSH Supplementary Concept]
- retinitis pigmentosa 18 [MeSH Supplementary Concept]
- retinitis pigmentosa 19 [MeSH Supplementary Concept]
- retinitis pigmentosa 2 [MeSH Supplementary Concept]
- retinitis pigmentosa 20 [MeSH Supplementary Concept]
- retinitis pigmentosa 25 [MeSH Supplementary Concept]
- retinitis pigmentosa 26 [MeSH Supplementary Concept]
- retinitis pigmentosa 27 [MeSH Supplementary Concept]
- retinitis pigmentosa 29 [MeSH Supplementary Concept]
- retinitis pigmentosa 3 [MeSH Supplementary Concept]
- retinitis pigmentosa 30 [MeSH Supplementary Concept]
- retinitis pigmentosa 31 [MeSH Supplementary Concept]
- retinitis pigmentosa 32 [MeSH Supplementary Concept]
- retinitis pigmentosa 33 [MeSH Supplementary Concept]
- retinitis pigmentosa 34 [MeSH Supplementary Concept]
- retinitis pigmentosa 35 [MeSH Supplementary Concept]
- retinitis pigmentosa 36 [MeSH Supplementary Concept]
- retinitis pigmentosa 37 [MeSH Supplementary Concept]
- retinitis pigmentosa 4 [MeSH Supplementary Concept]
- retinitis pigmentosa 41 [MeSH Supplementary Concept]
- retinitis pigmentosa 42 [MeSH Supplementary Concept]
- retinitis pigmentosa 46 [MeSH Supplementary Concept]
- retinitis pigmentosa 6 [MeSH Supplementary Concept]
- retinitis pigmentosa 7 [MeSH Supplementary Concept]
- retinitis pigmentosa 7 with Bull'S-Eye maculopathy [MeSH Supplementary Concept]
- retinitis pigmentosa 7, digenic [MeSH Supplementary Concept]
- retinitis pigmentosa 9 [MeSH Supplementary Concept]
- retinitis pigmentosa inversa with deafness [MeSH Supplementary Concept]
- retinitis pigmentosa with paraarteriolar preservation of retinal pigment epithelium [MeSH Supplementary Concept]
- retinitis pigmentosa, Late-Adult onset [MeSH Supplementary Concept]
- retinitis pigmentosa, Late-Onset dominant [MeSH Supplementary Concept]
- retinitis pigmentosa, X-Linked, and sinorespiratory infections, with or without deafness [MeSH Supplementary Concept]
- retinitis pigmentosa, Y-Linked [MeSH Supplementary Concept]
- retinitis pigmentosa, concentric [MeSH Supplementary Concept]
- retinitis pigmentosa, deafness, mental retardation, and hypogonadism [MeSH Supplementary Concept]
- retinopathy, pericentral pigmentary, autosomal recessive [MeSH Supplementary Concept]
- rhizomelic dysplasia, scoliosis, and retinitis pigmentosa [MeSH Supplementary Concept]
- skeletal dysplasia, rhizomelic, with retinitis pigmentosa [MeSH Supplementary Concept]
- spastic quadriplegia, retinitis pigmentosa, and mental retardation [MeSH Supplementary Concept]
- spondylometaphyseal dysplasia with Cone-Rod dystrophy [MeSH Supplementary Concept]
- tapetoretinal degeneration with ataxia [MeSH Supplementary Concept]
See also
- tangier disease [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cone-rod dystrophy 2 [OMIM Phenotype]
- Pigmentary retinopathy [HPO term]
- Retinitis Pigmentosa [NCIt concept]
- Retinitis pigmentosa [OMIM Phenotype]
- Retinitis pigmentosa [ORDO Disease]
- Retinitis pigmentosa [MedDRA Preferred Term]
- Retinitis pigmentosa [PASCAL descriptor]
- Retinitis pigmentosa (disorder) [SNOMED CT concept]
- Retinitis pigmentosa/retinal pigmentary changes [HRDO Sign]
- Rod-cone dystrophy [HPO term]
- obsolete Tapetoretinal degeneration [HPO term]
- retinitis pigmentosa [SNOMED Notion]
Validated automatic mappings to BTNT
- cone-rod dystrophy 2 [DO Concept]

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