leber congenital amaurosis

Preferred Label : leber congenital amaurosis;

MeSH definition : A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.;

MeSH synonym : amauroses, Leber congenital; congenital amauroses, Leber; amaurosis, Leber congenital; congenital amaurosis, Leber; Leber congenital amauroses; leber's amaurosis; amauroses, leber's; amaurosis, leber's; leber amaurosis; leber's amauroses; lebers amaurosis; leber abiotrophy; abiotrophies, leber; abiotrophy, leber; leber abiotrophies; leber congenital tapetoretinal degeneration; congenital retinal blindness; blindness, congenital retinal; blindnesses, congenital retinal; congenital retinal blindnesses; retinal blindnesses, congenital;

CISMeF synonym : Leber;

Related MeSH term : congenital amaurosis of retinal origin; Heredoretinopathia Congenitalis; Hereditary Retinal Aplasia; Dysgenesis Neuroepithelialis Retinae; Hereditary Epithelial Dysplasia of Retina;

Wikipedia link : https://en.wikipedia.org/wiki/Leber congenital amaurosis;

Details

Origin ID

D057130;

UMLS CUI

C0339527;

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)
- Congenital retinal blindness [ICD-11 More detail]
- Leber amaurosis [PASCAL descriptor]
- Leber congenital amaurosis 1 [OMIM Phenotype]
- Leber's idiopathic stellate neuroretinitis [ICD-11 More detail]
Currated CISMeF NLP mapping
- Leber Congenital Amaurosis [NCIt concept]
- Leber congenital amaurosis [Disease (Nov.)]
- Leber congenital amaurosis [DO Concept]
- Leber congenital amaurosis [ICD-11 More detail]
- Leber congenital amaurosis [OMIM phenotypic series]
- Leber congenital amaurosis [ORDO Disease]
- Leber's amaurosis (disorder) [SNOMED CT concept]
- Leber's congenital amaurosis [MedDRA Preferred Term]
DO Cross reference
- Leber congenital amaurosis [DO Concept]
Indexing information
- AIPL1 protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Genetic vitreous-retinal disease [ORDO Disease]
- Retinal ciliopathy due to mutation in the RPGRIP gene [ORDO Disease]
- Syndromic hyperopia [ORDO Disease]
- Syndromic keratoconus [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
ORDO relation(s)
- Leber congenital amaurosis [ORDO Disease]
Record concept(s)
- congenital amaurosis of retinal origin [MeSH concept]
- leber congenital amaurosis [MeSH concept]
Related MeSH Supplementary Concept(s)
- Senior-Loken syndrome 3 [MeSH Supplementary Concept]
- Senior-Loken syndrome 5 [MeSH Supplementary Concept]
- Senior-Loken syndrome 6 [MeSH Supplementary Concept]
- amaurosis congenita of leber, type 1 [MeSH Supplementary Concept]
- amaurosis congenita of leber, type 2 [MeSH Supplementary Concept]
- amaurosis congenita of leber, type 5 [MeSH Supplementary Concept]
- amaurosis congenita of leber, type 9 [MeSH Supplementary Concept]
- amaurosis hypertrichosis [MeSH Supplementary Concept]
- leber congenital amaurosis 10 [MeSH Supplementary Concept]
- leber congenital amaurosis 11 [MeSH Supplementary Concept]
- leber congenital amaurosis 12 [MeSH Supplementary Concept]
- leber congenital amaurosis 13 [MeSH Supplementary Concept]
- leber congenital amaurosis 14 [MeSH Supplementary Concept]
- leber congenital amaurosis 3 [MeSH Supplementary Concept]
- leber congenital amaurosis 4 [MeSH Supplementary Concept]
- leber congenital amaurosis 6 [MeSH Supplementary Concept]
- leber congenital amaurosis type 3 [MeSH Supplementary Concept]
- leber congenital amaurosis, type 4 [MeSH Supplementary Concept]
- senior loken syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leber Congenital Amaurosis [NCIt concept]
- Leber congenital amaurosis [ORDO Disease]
- Leber congenital amaurosis [DO Concept]
- Leber congenital amaurosis [Disease (Nov.)]
- Leber's amaurosis (disorder) [SNOMED CT concept]
- Leber's congenital amaurosis [MedDRA Preferred Term]

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