Congenital anomaly of digit
Developmental hereditary disorder
Robin sequence
X-linked recessive hereditary disease
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Pierre Robin sequence faciodigital anomaly syndrome (disorder)
Pierre Robin sequence faciodigital anomaly syndrome
Pierre Robin sequence with facial and digital anomalies
Chitayat Meunier Hodgkinson syndrome
The association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis), facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyper convex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development are normal. It has been described in two half brothers born to the same mother. Transmission appears to be X-linked recessive.
syndrooom van Pierre Robin-sequentie en faciodigitale anomalie
syndroom van Pierre Robin en faciodigitale anomalie
syndroom van Chitayat-Meunier-Hodgkinson
Id723461007
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified