aandoening van haargroei
autosomaal recessieve hereditaire aandoening
congenitale afwijking van haar
congenitale afwijking van ooglid
congenitale afwijking van retina
congenitale deformiteit van aangezicht
congenitale deformiteit van weke delen
deformiteit van ooglid
dwerggroei
ectodermale dysplasie
Eyelash finding
hereditaire aandoening van integumentum
hereditaire aandoening van visueel systeem
hereditaire ontwikkelingsstoornis
retinadegeneratie
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syndroom van trichomegalie, retinale pigmentdegeneratie en dwerggroei (aandoening)
syndroom van trichomegalie, retinale pigmentdegeneratie en dwerggroei
syndroom van trichomegalie, retinitis pigmentosa en groeiretardatie
Oliver McFarlane syndrome
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.
Id719944006
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyabnormaal lange groei
Finding sitegehele wimpers
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypigmentdegeneratie
Finding sitestructuur van retina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsmeetbare observatie betreffende lengte en/of groei
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map3363
SNOMED CT to ICD-10 extended map
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified