SNOMED CT, US Edition

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/SNOMEDCT/737579002
http://purl.bioontology.org/ontology/SNOMEDCT/737579002
Preferred Name

Congenital coloboma of macula lutea
Definitions
Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterised by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. A rare non-syndromic developmental defect of the eye. The disease has characteristics of well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.
Synonyms
Coloboma of macula
Congenital coloboma of macula lutea (disorder)
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterised by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.

A rare non-syndromic developmental defect of the eye. The disease has characteristics of well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.

Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.
prefLabel
Congenital coloboma of macula lutea
altLabel
Coloboma of macula
Congenital coloboma of macula lutea (disorder)
Type ID
900000000000003001
900000000000013009
Semantic type UMLS property
Has finding site
Effective time
20180131
cui
C1852767
Has pathological process
CTV3ID
XUyno
DEFINITION STATUS ID
900000000000073002
CASE SIGNIFICANCE ID
900000000000448009
Occurs in
tui
T019
Active
1
Has associated morphology
notation
737579002
type
subClassOf
Subset member
6011000124106~MAPADVICE~IF COLOBOMA OF MACULA WITH BRACHYDACTYLY TYPE B SYNDROME CHOOSE Q14.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
447562003~MAPTARGET~Q14.1
6011000124106~MAPTARGET~Q73.8
447562003~MAPADVICE~ALWAYS Q14.8
447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~Q35.9
447562003~MAPTARGET~Q14.8
6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
6011000124106~MAPTARGET~
6011000124106~MAPCATEGORYID~447638001
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPADVICE~IF MACULAR COLOBOMA, CLEFT PALATE, HALLUX VALGUS SYNDROME CHOOSE Q35.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPADVICE~IF MACULAR COLOBOMA, CLEFT PALATE, HALLUX VALGUS SYNDROME CHOOSE Q66.6 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
900000000000508004~ACCEPTABILITYID~900000000000549004
6011000124106~MAPRULE~IFA 717785002 | Coloboma of macula with brachydactyly type B syndrome |
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
6011000124106~MAPTARGET~Q66.6
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS Q14.1
6011000124106~MAPRULE~OTHERWISE TRUE
6011000124106~MAPCATEGORYID~447639009
6011000124106~MAPRULE~IFA 722463001 | Macular coloboma, cleft palate, hallux valgus syndrome |
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
447562003~MAPADVICE~ALWAYS Q14.1
6011000124106~MAPADVICE~IF COLOBOMA OF MACULA WITH BRACHYDACTYLY TYPE B SYNDROME CHOOSE Q73.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPADVICE~IF MACULAR COLOBOMA, CLEFT PALATE, HALLUX VALGUS SYNDROME CHOOSE Q14.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPTARGET~Q14.1
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
6011000124106~MAPPRIORITY~3
900000000000509007~ACCEPTABILITYID~900000000000549004
900000000000497000~MAPTARGET~XUyno
6011000124106~MAPPRIORITY~2
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