||||||||
syndroom van osteoporose en oculocutane hypopigmentatie (aandoening)
syndroom van osteoporose en oculocutane hypopigmentatie
syndroom van Hernández-Fragoso
Osteoporosis and oculocutaneous hypopigmentation syndrome
Hernandez Fragoso syndrome
A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported.
Id722113001
StatusPrimitive
Associated morphologyhypopigmentatie
Finding sitestructuur van bulbus oculi
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypopigmentatie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
Interpretsbotdensitometrie
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ79.8
TermOverige gespecificeerde congenitale misvormingen van botspierstelsel
TargetL81.9
TermPigmentatiestoornis, niet gespecificeerd
SNOMED CT to Orphanet simple map2786
SNOMED CT to ICD-10 extended map
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified