Autosomal recessive hereditary disorder
Congenital anomaly of cartilage
Congenital anomaly of eyelid
Congenital cleft nose
Congenital hypoplasia of nose
Connective tissue hereditary disorder
Developmental hereditary disorder
Disorder of soft tissue of head
Hereditary disorder of musculoskeletal system
Hereditary disorder of the visual system
Multiple malformation syndrome with facial defects as major feature
Soft tissue defect
Soft tissue lesion
Telecanthus
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Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder)
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome
Alar cartilage hypoplasia, coloboma, telecanthus syndrome
A very rare dysmorphic disorder with characteristics of hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.
syndroom van hypoplasie van kraakbeen van neusvleugel, coloboom en telecanthus
Id722284009
StatusPrimitive
Associated morphologyDevelopmental failure of fusion
Finding siteAlar cartilage structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyHypoplasia
Finding siteAlar cartilage structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteStructure of palpebral fissure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ75.8
RuleTRUE
AdviceALWAYS Q75.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified