PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
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Preferred Name

Rod-cone Dystrophy
Synonyms
Definitions

An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
ID

http://www.phoc.org.cn/pmo/class/PMO_00006723
Database_Cross_Reference

MDR:10054856

DXP:U001673

MTH:NOCODE

CCPSS:0041901

MTHICD9:362.74

ICPC2P:F99053

OMIM:MTHU001509

CSP:1114-9526

MEDCIN:30731

OMIM:604011

HPO:HP:0000547

LCH:U004109

OMIM:MTHU005737

MDR:10038914

ICD10CM:H35.52

NCI:C85045

DO:DOID:10584

OMIM:MTHU030127

SNOMEDCT_US:28835009

CST:RETINAL PIGMENT

COSTAR:U000595

CHV:0000010812

MSH:D012174

SNMI:DA-71906

SNM:D-X030

RCD:X00dw

HPO:HP:0000510

LCH_NW:sh85113336

OMIM:120970

DXP:NOCODE

HPO:HP:0000580

SNOMEDCT_US:155113002

OMIM:MTHU000153

RCD:F4276

OMIM:MTHU000322

DO:DOID:0111005

OMIM:268000

NDFRT:N0000002614
Definition

An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
equivalentClass

http://www.phoc.org.cn/pmo/class/PMO_00036607
label

Rod-cone Dystrophy
MCID

MC00011322
PMOID

PMO:00006723
prefixIRI

pmo:PMO_00006723
prefLabel

Rod-cone Dystrophy
Synonym

Retinopathy, Pigmentary

RP

Rod Cone Dystrophies

CORD

CRD2

Retinitis pigmentosa (disorder)

Retinitis Pigmentosa [Disease/Finding]

CONE-ROD DYSTROPHY 2

Cone-rod retinal dystrophy

DYSTROPHY, PERIPHERAL TAPETORETINAL

Retinitis Pigmentosa

Cone-rod dystrophy

Pigmentary Retinopathies

Pigmentary retinopathy

CHORIORETINAL HEREDODYSTROPHY

Tapetoretinal Degenerations

Rod-Cone Dystrophies

RETINAL CONE-ROD DYSTROPHY

CORD2

cone rod dystrophy

Pigmentary maculopathy

retinitis pigmentosa (diagnosis)

pericentral pigmentary retinopathy

Rod-Cone Dystrophy

Rod Cone Dystrophy

Tapetoretinal degeneration

Retinopathies, Pigmentary

RCRD2

retinal cone-rod dystrophy 2

RP - Retinitis pigmentosa

Retinitis pigmentosa (RP)

CRD

Retinitis;pigmentosa

cone-rod retinal dystrophy 2
Tree Number

T3.18.1.6.2.9.19.4
subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00037136

http://www.phoc.org.cn/pmo/class/PMO_00006717

http://www.phoc.org.cn/pmo/class/PMO_00006661

http://www.phoc.org.cn/pmo/class/PMO_00036594

http://www.phoc.org.cn/pmo/class/PMO_00037142
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