skip navigation links
National Cancer Institute
Enterprise Vocabulary Services
Box
NCIm Version: 201808 (Browser Version 2.9, using LexEVS 6.5.1)
SearchBox Top
SearchBox Bottom
Retinitis Pigmentosa (CUI C0035334) Suggest changes to this concept
Add to Cart

Terms & Properties

Concept Unique Identifier (CUI): C0035334

NCI Thesaurus Code: C85045  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare inherited retinal dystrophy disorder characterized by spots of black bone-spicule pigmentation of the retinal pigment epithelium. It is manifested with decreased vision in low light or in the night, followed by decreased peripheral vision, and, eventual decreased central vision. It may lead to blindness.

GARD Definition: Cone-rod dystrophies (CRDs) are a group of inherited eye disorders that affect both the cone and rod cells of the retina (photosenstitive receptor cells). In contrast to rod-cone dystrophies, individuals experience deterioration of the cone cells more severely than the rod cells. Initial signs and symptoms typically include decreased visual acuity when looking straight ahead (central vision loss); loss of color perception; and an abnormal sensitivity to light (photophobia). These signs are usually followed by progressive loss of peripheral vision and night blindness.  Most cases occur due to mutations in any one of several genes, and CRDs can be inherited as autosomal recessive, autosomal dominant, X-linked or mitochondrial (maternally-inherited) traits. CRDs are usually non-syndromic, but they may also be part of several syndromes. Currently, there is no therapy that stops progression of the disease or restores vision; management aims at slowing the process, treating complications and helping individuals cope with the social and psychological impact of blindness. - this information is from GARD/ORDR/NCATS.

GARD Definition: Retinitis pigmentosa (RP) is the name given to a group of inherited eye diseases that affect the light-sensitive part of the eye (retina). RP causes cells in the retina to breakdown and die, eventually resulting in vision loss. The first sign of RP is usually night blindness. As the condition progresses, affected individuals also develop tunnel vision. Sometimes RP occurs by itself (isolated RP), and other times it occurs with additional signs and symptoms (syndromic RP). Mutations in at least 50 genes have been found to cause RP. There is no cure for RP, however, there are a few treatment options to slow down the progression of the disease. These options include light avoidance, use of low-vision aids, and vitamin A supplementation. - this information is from GARD/ORDR/NCATS.

HPO Definition: Progressive rod photoreceptor dysfunction and loss that leads to night blindness and loss of peripheral visual field, either as the prevailing problem or occurring at least as severely as cone dysfunction. Occurs most often as retinitis pigmentosa (Hereditary degeneration and atrophy of the retina). [HPO:probinson, pmid:20212494]

MSH Definition: 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.

CSP Definition: group of inherited abnormalities in the retina; characterized by night blindness, retinal atrophy, weakening of the retinal vessels, pigment clumping, and contraction of the visual field.

Synonyms & Abbreviations: (see Synonym Details)
CHORIORETINAL HEREDODYSTROPHY
Cone-Rod Degenerations
CONE-ROD DYSTROPHY 2
Cone-rod dystrophy
Cone-rod retinal dystrophy
CORD2
CORD
CRD2
CRD
DYSTROPHY, PERIPHERAL TAPETORETINAL
Pigmentary maculopathy
Pigmentary Retinopathies
Pigmentary retinopathy
Pigmented retinopathy NOS
RCRD2
Retinal Cone-Rod Dystrophy
Retinitis pigmentosa (disorder)
Retinitis Pigmentosa [Disease/Finding]
RETINITIS PIGMENTOSA
Retinopathies, Pigmentary
Retinopathy, Pigmentary
Rod Cone Dystrophies
Rod Cone Dystrophy
Rod-Cone Dystrophies
Rod-Cone Dystrophy
RP - Retinitis pigmentosa
RP
Tapetoretinal Degenerations
Tapetoretinal degeneration

External Source Codes: 
NCI Thesaurus Code C85045 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN note entry term ROD CONE DYSTROPHIES: CONE-ROD DYSTROPHIES is also available MSH
AQL BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID F4276 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2013-01-21T00:06:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-21T00:06:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1114-9526 CSP
DISEASE_IDENTIFIER_ID 16865 GARD
DISEASE_IDENTIFIER_ID 22824 GARD
DX 19660101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D013631 MSH
GENELOCUS ,1,9,q,1,3,.,3, OMIM
GENESYMBOL CORD2 OMIM
GENESYMBOL CRD OMIM
GENESYMBOL CRX OMIM
GENESYMBOL LCA7 OMIM
HAS_GARD_PAGE true GARD
HPO_COMMENT Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience. HPO
IDENTIFIER_ORDER 2 GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Modified GARD
LAST_REVIEW_DATE 2013-06-21T00:00:00 GARD
MDA 19990101 MSH
MESH_DEFINITION Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field. NDFRT
MESH_DUI D012174 NDFRT
MESH_NAME Retinitis Pigmentosa NDFRT
MESH_UI M0018960 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20160531 MSH
MN C11.270.684 MSH
MN C11.768.585.658.500 MSH
MN C16.320.290.684 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000002614 NDFRT
PRIMARY_PATH 10038914$10038855$10015920$10010331$Retinitis pigmentosa$Retinal disorders congenital$Eye disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/10790/cone-rod-dystrophy/resources/1 GARD
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/4357/pigmentary-retinopathy/resources/1 GARD
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/5694/retinitis-pigmentosa/resources/1 GARD
RXAUI 3220937 RXNORM
RXAUI 3231912 RXNORM
RXAUI 3231913 RXNORM
RXAUI 3232569 RXNORM
RXAUI 3232579 RXNORM
RXAUI 3247250 RXNORM
RXAUI 3605651 RXNORM
RXAUI 3605652 RXNORM
RXAUI 5039100 RXNORM
RXAUI 5039907 RXNORM
RXCUI 1021956 RXNORM
SID HP:0001127 HPO
SID HP:0007635 HPO
SID HP:0007645 HPO
SID HP:0007742 HPO
SID HP:0007816 HPO
SID HP:0007826 HPO
SID HP:0007869 HPO
SID HP:0007927 HPO
SID HP:0008036 HPO
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 12.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 12.0 MDR
SMQ_TERM_LMVERSION 12.1 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 1 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_STATUS I MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 28835009 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS H35.5 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~H35.5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS H35.52 | DESCENDANTS NOT EXHAUSTIVELY MAPPED SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~H35.52 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~F4276 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T036230 MSH
TERMUI T036231 MSH
TERMUI T036232 MSH
TERMUI T036233 MSH
TERMUI T036234 MSH
TH GHR (2014) MSH
TH NLM (1966) MSH
TH NLM (1990) MSH
TH OMIM (2013) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0035334

Mainbox Bottom