Autosomal dominant hereditary disorder
Developmental hereditary disorder
Multiple system malformation syndrome
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Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome (disorder)
Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome
A rare genetic developmental defect during embryogenesis with primary characteristics of congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.
syndroom van postaxiale polydactylie, anterieure hypofyseafwijkingen en faciale dysmorfie
Id763866005
StatusPrimitive
Associated morphologyMorphologically abnormal 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