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Congenital hypoplasia of ulna and intellectual disability syndrome (disorder)
Congenital hypoplasia of ulna and intellectual disability syndrome
Ulna hypoplasia with intellectual disability syndrome
A very rare syndrome with characteristics of mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. It has been reported in two siblings. The family is suggestive of autosomal recessive inheritance. Prognosis is poor.
syndroom van hypoplasie van ulna en verstandelijke beperking
syndroom van hypoplasie van ulna en verstandelijke handicap
syndroom van hypoplasie van ulna en mentale retardatie
Id719842006
StatusPrimitive
Associated morphologyHypoplasia
Finding siteBone structure of ulna
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteBone structure of extremity
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified