Code System Concept

Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Code System Concept

Code System Concept Code	778021002
Code System Concept Name	Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome (disorder)
Code System Preferred Concept Name	Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	01/31/2019
SDO Date Created	01/31/2019
SDO Date Revised	01/31/2019
Description	A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity and on occasion acute-angle glaucoma. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3737210015	Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Active	Synonym	false	false
3747112019	Nanophthalmos, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive retinitis pigmentosa (disorder) {232053004 , SNOMED-CT } Congenital retinoschisis (disorder) {95493003 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Disorder of macula of retina (disorder) {312999006 , SNOMED-CT } Drusen of optic disc (finding) {33629003 , SNOMED-CT } Hereditary degenerative disease of central nervous system (disorder) {106018006 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Inherited optic neuropathy (disorder) {312942003 , SNOMED-CT } Microphthalmos (disorder) {61142002 , SNOMED-CT } Optic disc disorder (disorder) {128331005 , SNOMED-CT } Retinal detachment (disorder) {42059000 , SNOMED-CT } Retinoschisis (disorder) {44268007 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,