congenitale fibrose van extraoculaire spieren (aandoening)
congenitale fibrose van extraoculaire spieren
aangeboren fibrose van extraoculaire spieren
Congenital fibrosis syndrome
Congenital fibrosis of extraocular muscles
A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others.
Associated morphologyfibrose
Finding sitestructuur van extraoculaire spier
Pathological processproces van pathologische ontwikkeling
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde vormen van paralytische strabismus
SNOMED CT to Orphanet simple map45358
SNOMED CT to ICD-10 extended map
AdviceALWAYS H49.8
CorrelationSNOMED CT source code to target map code correlation not specified