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syndroom van pili torti met ontwikkelingsachterstand en neurologische afwijking (aandoening)
syndroom van pili torti met ontwikkelingsachterstand en neurologische afwijking
Pili torti with developmental delay and neurological abnormality syndrome
Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.
Id716194005
StatusPrimitive
Associated morphologyafgevlakte deformiteit
Finding sitestructuur van scapus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologytortuositas
Finding sitestructuur van haar
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map2891
SNOMED CT to ICD-10 extended map
TargetQ84.1
RuleTRUE
AdviceALWAYS Q84.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified