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716775009: Nanophthalmia (disorder)


Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3307535017 Nanophthalmia (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3307536016 Nanophthalmia en Synonym Active Case insensitive SNOMED CT core
3307537013 A severe form of microphthalmia with characteristics of a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. Nanophthalmia is generally bilateral. Strabism is present in most patients. Mutations in the MFRP gene (11q23.1) have been found to be responsible for the hereditary form with recessive transmission. Chromosomal anomalies involving chromosome 11p and 2q11-14 have been identified for autosomal dominant forms of nanophthalmia. It may be inherited as an autosomal dominant or recessive trait, or may occur sporadically. en Definition Active Case sensitive SNOMED CT core


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Nanophthalmia Pathological process Pathological developmental process true Inferred relationship Some 1
Nanophthalmia Is a Microphthalmos true Inferred relationship Some
Nanophthalmia Associated morphology Congenital smallness true Inferred relationship Some 1
Nanophthalmia Occurrence Congenital true Inferred relationship Some 1
Nanophthalmia Finding site Entire eye true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Retinal degeneration, nanophthalmos, glaucoma syndrome Is a True Nanophthalmia Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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