Preferred Label : coloboma;
MeSH definition : Congenital anomaly in which some of the structures of the eye are absent due to incomplete
fusion of the fetal intraocular fissure during gestation.;
MeSH synonym : colobomas; coloboma, ocular; ocular coloboma; Colobomas, Ocular; Ocular Colobomas; Coloboma Of Iris, Choroid, And Retina;
CISMeF synonym : coloboma of iris, choroid, and retina; uveoretinal coloboma;
MeSH hyponym : Coloboma, Uveoretinal; Colobomas, Uveoretinal; Uveoretinal Colobomas;
MeSH annotation : eye abnorm; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; coord
IM with specific site in eye /abnorm (IM); coordinate with specific site in eye /abnorm;
Wikipedia link : https://en.wikipedia.org/wiki/Coloboma;
Origin ID : D003103;
UMLS CUI : C0009363;
- Allowable qualifiers
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- HPO term
- Record concept(s)
- Related MeSH Supplementary Concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
Congenital anomaly in which some of the structures of the eye are absent due to incomplete
fusion of the fetal intraocular fissure during gestation.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2196
false
true
false
France
scientific and technical information
hypercalciuria
coloboma
syndrome
retina
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=139450
2011
France
scientific and technical information
microtia
coloboma
Microtia-Anotia
syndrome
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=98947
2011
France
scientific and technical information
coloboma
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=98946
2011
France
scientific and technical information
eyelids
coloboma of eyelid
coloboma
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=98945
2011
France
scientific and technical information
coloboma
hereditary macular coloboma
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=157788
2011
France
scientific and technical information
hypertelorism
deafness
hypospadias
hypospadias
coloboma
deafness
hypertelorism with esophageal abnormality and hypospadias
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=163961
2011
France
scientific and technical information
coloboma
intellectual disability
microvascular angina
cerebellar diseases
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=168972
2011
France
scientific and technical information
glycosylation
congenital disorders of glycosylation
steroids
cataract
cataract
coloboma
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=91494
2011
France
scientific and technical information
coloboma
hereditary macular coloboma
cleft palate
hallux valgus
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=98942
2011
France
scientific and technical information
coloboma
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=98943
2011
France
scientific and technical information
coloboma
lens, crystalline
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=98944
2011
France
scientific and technical information
coloboma
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2399
2006
France
French
lipoma
coloboma
rare diseases
nasopalpebral lipoma coloboma syndrome
abnormalities, multiple
eyelid neoplasms
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=194
2002
France
French
coloboma
rare diseases
coloboma
diagnosis, differential
signs and symptoms
coloboma
scientific and technical information
---
http://www.snof.org/maladies/morning.html
2001
France
French
coloboma
child
coloboma
coloboma
popular works
ophthalmoscopy
angiography
ultrasonography
tomography, X-ray computed
---
http://www.snof.org/maladies/colobome.html
2001
France
French
ophthalmoscopy
coloboma
coloboma
coloboma
coloboma
signs and symptoms
popular works
image
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