Autosomal dominant polycystic kidney disease
Congenital anomaly of digit
Congenital anomaly of the kidney
Congenital anomaly of the thyroid gland
Developmental hereditary disorder
Hereditary disorder of endocrine system
Multinodular goiter
Multiple malformation syndrome with limb defect as major feature
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Multinodular goiter, cystic kidney, polydactyly syndrome (disorder)
Multinodular goiter, cystic kidney, polydactyly syndrome
Daneman Davy Mancer syndrome
Thyroid, renal, digital anomaly syndrome
A very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. It has been described in two siblings and one unrelated child. The two siblings had digitalized thumbs and preaxial polydactyly, the third child had normal thumbs and postaxial polydactyly. Goiter and/or digitalized thumbs and/or polydactyly were present in other members of families. This syndrome seems to be transmitted as an autosomal dominant trait with variable expression and incomplete penetrance.
syndroom van multinodulair struma, cystenier en polydactylie
syndroom van Daneman-Davy-Mancer
Id723409007
StatusPrimitive
Associated morphologyMultinodular hyperplasia
Finding siteThyroid structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyEnlargement
Finding siteEntire thyroid gland
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyPolycystic change
Finding siteKidney 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