Nakajo-Nishimura syndrome

Preferred Label : Nakajo-Nishimura syndrome;

ICD-11 definition : Nakajo-Nishimura syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.;

ICD-11 synonym : autoinflammation - lipoDystrophy - dermatosis syndrome; Joint contractures - Muscular atrophy - microcytic anaemia - Panniculitis-induced lipodystrophy syndrome [JMP]; ALDD - [autoinflammation - lipoDystrophy - dermatosis syndrome]; CANDLE - [chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome]; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome;

ICD-11 acronym : CANDLE; ALDD;

Details

Origin ID

798723102;

Automatic exact mappings (from CISMeF team)
- Autoinflammation, lipodystrophy and dermatosis syndrome (disorder) [SNOMED CT concept]
- Bougie, device (physical object) [SNOMED CT concept]
- Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome [MedDRA LLT]
- Nakajo-Nishimura syndrome [ORDO Disease]
- PSMB8 wt Allele [NCIt concept]
- Proteasome-Associated Autoinflammatory Syndrome 1 [NCIt concept]
- Proteasome-associated autoinflammatory syndrome 1 [OMIM Phenotype]
- bougie, nos [SNOMED Notion]

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