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Trigonocephaly with broad thumb syndrome (disorder)
Trigonocephaly with broad thumb syndrome
Hunter Rudd Hoffmann syndrome
This syndrome has characteristics of neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.
syndroom van trigonocefalie en brede digiti I
syndroom van trigonocefalie en brede duimen
syndroom van Hunter-Rudd-Hoffmann
Id719949001
StatusPrimitive
Finding siteThumb structure
Associated morphologyMorphologically abnormal structure
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteNasal structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAbnormal shape
Finding siteFrontal bone structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified