SNOMED CT, US Edition

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/SNOMEDCT/733116005
http://purl.bioontology.org/ontology/SNOMEDCT/733116005
Preferred Name

Aniridia, renal agenesis, psychomotor retardation syndrome
Definitions
An extremely rare syndrome reported in two siblings of non-consanguineous parents that is characterised by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. An extremely rare syndrome reported in two siblings of non-consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. An extremely rare syndrome reported in two siblings of non-consanguineous parents with the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.
Synonyms
Sommer Rathbun Battles syndrome
Aniridia, renal agenesis, psychomotor retardation syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

An extremely rare syndrome reported in two siblings of non-consanguineous parents that is characterised by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.

An extremely rare syndrome reported in two siblings of non-consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.

An extremely rare syndrome reported in two siblings of non-consanguineous parents with the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.
prefLabel
Aniridia, renal agenesis, psychomotor retardation syndrome
altLabel
Sommer Rathbun Battles syndrome
Aniridia, renal agenesis, psychomotor retardation syndrome (disorder)
Has interpretation
Type ID
900000000000003001
900000000000013009
Semantic type UMLS property
Has finding site
interprets
Effective time
20170731
cui
C4518585
Has pathological process
CTV3ID
XUxkZ
DEFINITION STATUS ID
900000000000074008
CASE SIGNIFICANCE ID
900000000000448009
900000000000017005
Occurs in
tui
T047
Active
1
Has associated morphology
notation
733116005
type
subClassOf
Subset member
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447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPTARGET~Q87.8
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000497000~MAPTARGET~XUxkZ
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
6011000124106~MAPTARGET~Q13.1
6011000124106~MAPADVICE~ALWAYS Q60.2
447562003~MAPCATEGORYID~447637006
447562003~MAPADVICE~ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPADVICE~ALWAYS Q13.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPADVICE~ALWAYS R41.843 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPTARGET~R41.843
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