coloboma - CISMeF

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;

Details

Origin ID

D003103;

UMLS CUI

C0009363;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [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)
- Coloboma of eyelid (disorder) [SNOMED CT concept]
- Coloboma of iris [ICD-11 Subcategory]
- Coloboma of iris [ICD-10 Sub-category (who)]
- Congenital ocular coloboma (disorder) [SNOMED CT concept]
- obsolete Irido-fundal coloboma [HPO term]
Currated CISMeF NLP mapping
- Coloboma [PASCAL descriptor]
- Coloboma [HPO term]
- Coloboma [MedDRA Preferred Term]
- Coloboma of eye (disorder) [Inactive SNOMED CT concept]
- Coloboma of the Eye [NCIt concept]
- Coloboma, ocular, autosomal recessive [OMIM Phenotype]
- Colobomata [MedDRA LLT]
- Microphthalmia/coloboma 12 [OMIM Phenotype]
- Ocular coloboma [ORDO Disease]
- coloboma [Disease (Nov.)]
- coloboma [DO Concept]
- coloboma of eye, nos [SNOMED Notion]
DO Cross reference
- coloboma [DO Concept]
HPO term
- Coloboma [HPO term]
Record concept(s)
- Uveoretinal Coloboma [MeSH concept]
- coloboma [MeSH concept]
Related MeSH Supplementary Concept(s)
- COACH syndrome [MeSH Supplementary Concept]
- Cleft eyelid [MeSH Supplementary Concept]
- Coloboma, cleft lip-palate and mental retardation syndrome [MeSH Supplementary Concept]
- Coloboma-Obesity-Hypogenitalism-Mental retardation syndrome [MeSH Supplementary Concept]
- alsing syndrome [MeSH Supplementary Concept]
- aortic arch interruption, facial palsy, and retinal coloboma [MeSH Supplementary Concept]
- arima syndrome [MeSH Supplementary Concept]
- baraitser rodeck garner syndrome [MeSH Supplementary Concept]
- biemond syndrome II [MeSH Supplementary Concept]
- brachydactyly, coloboma, and anterior segment dysgenesis [MeSH Supplementary Concept]
- calloso-genital dysplasia [MeSH Supplementary Concept]
- coloboma of alar-nasal cartilages with telecanthus [MeSH Supplementary Concept]
- coloboma of macula and skeletal anomalies [MeSH Supplementary Concept]
- coloboma of macula type B brachydactyly [MeSH Supplementary Concept]
- coloboma of optic nerve [MeSH Supplementary Concept]
- coloboma, uveal, with cleft lip and palate and mental retardation [MeSH Supplementary Concept]
- corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia [MeSH Supplementary Concept]
- hereditary macular coloboma [MeSH Supplementary Concept]
- hittner hirsch kreh syndrome [MeSH Supplementary Concept]
- hypospadias, hypertelorism, upper lid coloboma, and Mixed-Type hearing loss [MeSH Supplementary Concept]
- iris coloboma with ptosis, hypertelorism, and mental retardation [MeSH Supplementary Concept]
- kahrizi syndrome [MeSH Supplementary Concept]
- macrosomia obesity macrocephaly ocular abnormalities [MeSH Supplementary Concept]
- marles greenberg persaud syndrome [MeSH Supplementary Concept]
- median cleft lip, corpus callosum, lipoma, and skin polyps [MeSH Supplementary Concept]
- microphthalmia and mental deficiency [MeSH Supplementary Concept]
- microphthalmia associated with colobomatous cyst [MeSH Supplementary Concept]
- microphthalmia, cataracts, and iris abnormalities [MeSH Supplementary Concept]
- microphthalmia, isolated, with coloboma 1 [MeSH Supplementary Concept]
- microphthalmia, isolated, with coloboma 2 [MeSH Supplementary Concept]
- microphthalmia, isolated, with coloboma 3 [MeSH Supplementary Concept]
- microphthalmia, isolated, with coloboma 4 [MeSH Supplementary Concept]
- microphthalmia, isolated, with coloboma 5 [MeSH Supplementary Concept]
- microtia with nasolacrimal duct imperforation and eye coloboma [MeSH Supplementary Concept]
- nasopalpebral lipoma coloboma syndrome [MeSH Supplementary Concept]
- otodental dysplasia [MeSH Supplementary Concept]
- papillorenal syndrome [MeSH Supplementary Concept]
- pfeiffer mayer syndrome [MeSH Supplementary Concept]
- temtamy syndrome [MeSH Supplementary Concept]
- thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness [MeSH Supplementary Concept]
- yim ebbin syndrome [MeSH Supplementary Concept]
- zunich neuroectodermal syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Coloboma [HPO term]
- Coloboma [MedDRA Preferred Term]
- Coloboma of eye (disorder) [Inactive SNOMED CT concept]
- Coloboma of the Eye [NCIt concept]
- Colobomata [MedDRA LLT]
- Congenital ocular coloboma (disorder) [SNOMED CT concept]
- Microphthalmia/coloboma 12 [OMIM Phenotype]
- Ocular coloboma [ORDO Disease]
- coloboma [DO Concept]
- coloboma of eye, nos [SNOMED Notion]
- congenital ocular coloboma, nos [SNOMED Notion]

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