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pijnlijke orbitale en systemische neurofibromen-marfanoïde habitus-syndroom (aandoening)
pijnlijke orbitale en systemische neurofibromen-marfanoïde habitus-syndroom
Painful orbital and systemic neurofibroma, marfanoid habitus syndrome
A rare benign peripheral nerve sheath tumor disorder characterized by multiple painful mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa. Also associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.
Id773642001
StatusPrimitive
Associated morphologyplexiform neurofibroom
Interpretslichaamsbouw
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD36.1
TermBenigne neoplasma van perifere zenuwen en autonoom zenuwstelsel
SNOMED CT to Orphanet simple map300501
SNOMED CT to ICD-10 extended map
TargetD36.1
RuleTRUE
AdviceALWAYS D36.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE
CorrelationSNOMED CT source code to target map code correlation not specified