| neurofibromatose type 6 (aandoening) | | neurofibromatose type 6 | | familiaire multipele 'café au lait'-vlekken
familiaire multipele café-au-laitvlekken
| | Neurofibromatosis type 6 | | Familial CALMs (café-au-lait macules) isolated
Multiple café-au-lait spots
Familial café-au-lait spots
Familial isolated café-au-lait spots
Familial isolated café-au-lait macules
Multiple café-au-lait syndrome
NF6 - neurofibromatosis type 6
| | A cutaneous disorder with characteristics of the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. Prevalence is unknown, but the disease appears to be extremely rare. The macules may appear in infancy, but usually they are detected after 2 years of age. Close linkage to the NF1 gene (17q11.2) has been reported in some cases. Transmission is autosomal dominant. |
| | Id | 1208340009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 2678 |
| SNOMED CT to ICD-10 extended map | | Target | L81.3 | | Rule | TRUE | | Advice | ALWAYS L81.3 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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