neurofibromatose type 1
|
neurofibromatose met syndroom van Noonan (aandoening)
neurofibromatose met syndroom van Noonan
NF-NS
neurofibromatose-Noonan-syndroom
Neurofibromatosis Noonan syndrome
Neurofibromatosis with Noonan phenotype
Neurofibromatosis type 1 Noonan syndrome
NFNS - Neurofibromatosis Noonan syndrome
A variant of neurofibromatosis type 1 characterized by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity.
Id715344006
StatusPrimitive
Associated morphologyneurofibromatose
Finding sitestructuur van huid
Occurrencecongenitaal
Associated morphologyneurofibromatose
Finding sitestructuur van systema nervosum
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map638
SNOMED CT to ICD-10 extended map
TargetQ85.0
RuleTRUE
AdviceALWAYS Q85.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1
CorrelationSNOMED CT source code to target map code correlation not specified