Optic Nerve Hypoplasia

Preferred Label : Optic Nerve Hypoplasia;

MeSH definition : A group of rare genetic disorders characterized by underdeveloped OPTIC NERVES, resulting in increased incidences of vision impairment, CONGENITAL NYSTAGMUS and STRABISMUS. It may be syndromic, and is often associated with CNS malformations.;

MeSH synonym : Hypoplasia, Optic Nerve;

MeSH hyponym : Superior Segmental Optic Hypoplasia;

Details

Origin ID

D000080344;

UMLS CUI

C0338502;

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)
- Optic nerve hypoplasia [ICD-9 code]
Currated CISMeF NLP mapping
- Hypoplasia of the optic nerve (disorder) [SNOMED CT concept]
- Optic Nerve Hypoplasia [NCIt concept]
- Optic nerve hypoplasia [HPO term]
- Optic nerve hypoplasia [MedDRA Preferred Term]
- hypoplasia of the optic nerve [SNOMED Notion]
- optic nerve hypoplasia [Disease (Nov.)]
DO Cross reference
- bilateral optic nerve hypoplasia [DO Concept]
Record concept(s)
- Optic Nerve Hypoplasia [MeSH concept]
- Superior Segmental Optic Nerve Hypoplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoplasia of the optic nerve (disorder) [SNOMED CT concept]
- Isolated optic nerve hypoplasia/aplasia [ORDO Disease]
- Optic Nerve Hypoplasia [NCIt concept]
- Optic nerve hypoplasia [MedDRA Preferred Term]
- Optic nerve hypoplasia [HPO term]
- Optic nerve hypoplasia [ICD-9 code]
- bilateral optic nerve hypoplasia [DO Concept]
- hypoplasia of the optic nerve [SNOMED Notion]
- optic nerve hypoplasia [Disease (Nov.)]

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