SNOMED CT

Last uploaded: January 31, 2024
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Preferred Name

Hemifacial microsomia with radial defect syndrome
Synonyms

Oculoauriculovertebral spectrum with radial defects
Definitions

A rare branchial arches and limb primordia development disorder with characteristics of variable degrees of uni or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (including facial asymmetry, external, middle and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.
ID

http://purl.bioontology.org/ontology/SNOMEDCT/726722009
Active

1
altLabel

Oculoauriculovertebral spectrum with radial defects

Hemifacial microsomia with radial defect syndrome (disorder)

Moeschler Clarren syndrome
CASE SIGNIFICANCE ID

900000000000448009

900000000000017005
CTV3ID

XUwLO
cui

C0220681
definition

A rare branchial arches and limb primordia development disorder with characteristics of variable degrees of uni or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (including facial asymmetry, external, middle and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.
DEFINITION STATUS ID

900000000000074008
Effective time

20170731
Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/49755003

http://purl.bioontology.org/ontology/SNOMEDCT/55199003
Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/62413002

http://purl.bioontology.org/ontology/SNOMEDCT/91397008
Has pathological process

http://purl.bioontology.org/ontology/SNOMEDCT/308490002
notation

726722009
Occurs in

http://purl.bioontology.org/ontology/SNOMEDCT/255399007
prefLabel

Hemifacial microsomia with radial defect syndrome
Subset member

447562003~MAPRULE~TRUE

6011000124106~MAPGROUP~1

6011000124106~MAPGROUP~2

447562003~MAPGROUP~2

6011000124106~MAPADVICE~ALWAYS Q74.0

900000000000508004~ACCEPTABILITYID~900000000000549004

447562003~MAPGROUP~1

447562003~MAPTARGET~Q74.0

447562003~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

447562003~MAPADVICE~ALWAYS Q75.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION

447562003~MAPADVICE~ALWAYS Q74.0

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPPRIORITY~1

447562003~MAPCATEGORYID~447637006

900000000000497000~MAPTARGET~XUwLO

6011000124106~MAPTARGET~Q74.0

447562003~MAPTARGET~Q75.8

6011000124106~MAPPRIORITY~1

6011000124106~CORRELATIONID~447561005

6011000124106~MAPTARGET~Q67.0

6011000124106~MAPRULE~TRUE

900000000000509007~ACCEPTABILITYID~900000000000549004

6011000124106~MAPADVICE~ALWAYS Q67.0
tui

T047

T019
Type ID

900000000000003001

900000000000013009
subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/23359005

http://purl.bioontology.org/ontology/SNOMEDCT/254025006

http://purl.bioontology.org/ontology/SNOMEDCT/123559005
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