loading...| Preferred Name |
Cone-Rod Dystrophies |
|
| Synonyms |
Rod Cone Dystrophy Cone Rod Dystrophies Retinal Dystrophy, Cone-Rod Cone Rod Dystrophy 2 Cone Rod Degenerations Retinal Dystrophies, Cone-Rod Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy Cone-Rod Dystrophy 2 Cone-Rod Dystrophies, Retinal Cone Rod Dystrophy Retinal Cone Rod Dystrophy Rod-Cone Dystrophy Cone-Rod Degeneration Cone Rod Retinal Dystrophy Cone-Rod Retinal Dystrophies Retinal Cone-Rod Dystrophies Rod-Cone Dystrophies Cone-Rod Dystrophy, Retinal Retinal Cone-Rod Dystrophy Cone-Rod Degenerations Rod Cone Dystrophies |
|
| Definitions |
Genetically heterogeneous and sometimes syndromic (e.g., BARDET BIEDL SYNDROME; and SPINOCEREBELLAR ATAXIA TYPE 7) retinopathies with initial RETINAL CONE involvement. They are characterized by decreased VISUAL ACUITY; COLOR VISION DEFECTS; progressive loss of peripheral vision and night blindness. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D000071700 |
|
| altLabel |
Rod Cone Dystrophy Cone Rod Dystrophies Retinal Dystrophy, Cone-Rod Cone Rod Dystrophy 2 Cone Rod Degenerations Retinal Dystrophies, Cone-Rod Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy Cone-Rod Dystrophy 2 Cone-Rod Dystrophies, Retinal Cone Rod Dystrophy Retinal Cone Rod Dystrophy Rod-Cone Dystrophy Cone-Rod Degeneration Cone Rod Retinal Dystrophy Cone-Rod Retinal Dystrophies Retinal Cone-Rod Dystrophies Rod-Cone Dystrophies Cone-Rod Dystrophy, Retinal Retinal Cone-Rod Dystrophy Cone-Rod Degenerations Rod Cone Dystrophies |
|
| AN |
ROD CONE DYSTROPHIES see RETINITIS PIGMENTOSA is also available |
|
| AQL |
BL CF CI CL 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 |
|
| cui |
C4551714 C4085590 C3489532 |
|
| DC |
1 |
|
| definition |
Genetically heterogeneous and sometimes syndromic (e.g., BARDET BIEDL SYNDROME; and SPINOCEREBELLAR ATAXIA TYPE 7) retinopathies with initial RETINAL CONE involvement. They are characterized by decreased VISUAL ACUITY; COLOR VISION DEFECTS; progressive loss of peripheral vision and night blindness. |
|
| DX |
20170101 |
|
| HN |
2017; use RETINITIS PIGMENTOSA 2011-2016 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2017; see RETINITIS PIGMENTOSA 2011-2016 |
|
| Mapped from | ||
| MDA |
20160705 |
|
| MMR |
20180630 |
|
| MN |
C16.320.290.152 C11.270.152 C11.768.585.658.250 |
|
| notation |
D000071700 |
|
| prefLabel |
Cone-Rod Dystrophies |
|
| TERMUI |
T767045 T000897292 T811867 T811871 T811870 T036233 T036234 T767042 |
|
| TH |
OMIM (2013) NLM (1990) GHR (2014) NLM (2017) NLM (2011) |
|
| tui |
T047 |
|
| subClassOf |