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Pseudoprogeria syndrome (disorder)
Pseudoprogeria syndrome
Hall Berg Rudolph syndrome
Absent eyebrows and eyelashes with intellectual disability syndrome
Syndrome with characteristics of intellectual deficit associated with progressive spastic quadriplegia, microcephaly, and glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers.
pseudoprogeriasyndroom
syndroom van Hal-Berg-Rudolph
syndroom van afwezige wenkbrauwen en wimpers en mentale retardatie
Id733086003
StatusPrimitive
Associated morphologyAgenesis
Finding siteEntire eyebrow
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteEye structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAgenesis
Finding siteEntire eyelash
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCongenital smallness
Finding siteHead 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