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syndroom van kleine gestalte, skeletdysplasie, retinadegeneratie, verstandelijke beperking en perceptief gehoorverlies (aandoening)
syndroom van kleine gestalte, skeletdysplasie, retinadegeneratie, verstandelijke beperking en perceptief gehoorverlies
syndroom van kleine gestalte, skeletdysplasie, retinadegeneratie, mentale retardatie en perceptief gehoorverlies
Linefarb-syndroom
syndroom van kleine lichaamslengte, skeletdysplasie, retinadegeneratie, verstandelijke handicap en perceptief gehoorverlies
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
Liberfarb syndrome
A rare primary bone dysplasia with characteristics of microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities and severe joint laxity resulting in multiple joint dislocations.
Id1284851009
StatusPrimitive
Has interpretationverlaagd
Interpretsgehoorfunctie
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
Associated morphologydysplasie
Finding sitestructuur van skeletstelsel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycongenitale kleinheid
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydegeneratieve afwijking
Finding sitestructuur van retina
SNOMED CT to ICD-10 extended map
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