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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
Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).
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
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