SNOMED CT, US Edition

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/SNOMEDCT/724281002
http://purl.bioontology.org/ontology/SNOMEDCT/724281002
Preferred Name

Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
Definitions
This syndrome is characterised by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Syndrome with the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. It has been described in two males. Additional features included bilateral inguinal hernias, undescended testes, and impaired vision with cataracts and colobomata.
Synonyms
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)
Bosma arhinia microphthalmia syndrome
Bosma Henkin Christiansen syndrome
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

This syndrome is characterised by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.

This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.

Syndrome with the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. It has been described in two males. Additional features included bilateral inguinal hernias, undescended testes, and impaired vision with cataracts and colobomata.
prefLabel
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
altLabel
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)
Bosma arhinia microphthalmia syndrome
Bosma Henkin Christiansen syndrome
Type ID
900000000000003001
900000000000013009
Semantic type UMLS property
Has finding site
Effective time
20170731
cui
C4510568
Has pathological process
CTV3ID
XUvSv
DEFINITION STATUS ID
900000000000074008
CASE SIGNIFICANCE ID
900000000000448009
900000000000017005
Occurs in
tui
T047
Active
1
Has associated morphology
notation
724281002
type
subClassOf
Subset member
447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS R43.0
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000497000~MAPTARGET~XUvSv
6011000124106~MAPADVICE~ALWAYS Q11.2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPTARGET~Q87.8
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS Q30.1
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPTARGET~R43.0
6011000124106~MAPGROUP~4
447562003~MAPADVICE~ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPTARGET~Q30.1
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~E23.0
447562003~MAPADVICE~ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPRULE~TRUE
6011000124106~MAPTARGET~Q11.2
6011000124106~MAPGROUP~3
447562003~MAPTARGET~Q87.0
6011000124106~MAPADVICE~ALWAYS E23.0
900000000000509007~ACCEPTABILITYID~900000000000549004
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