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chronische recidiverende multifocale osteomyelitis, congenitale dyserytropoëtische anemie en neutrofiele dermatose (aandoening)
chronische recidiverende multifocale osteomyelitis, congenitale dyserytropoëtische anemie en neutrofiele dermatose
Majeed-syndroom
syndroom van Majeed
Majeed syndrome
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance.
Id703540008
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitebotstructuur
Pathological processproces van pathologische ontwikkeling
Associated morphologychronische ontsteking
Finding sitestructuur van skeletstelsel
Pathological processafwijkend immuunproces
Finding siteerytrocyt
Occurrencecongenitaal
Clinical coursechronisch
referentieset met complexe 'mapping' naar ICD-10
TargetM86.39
RuleTRUE
AdviceALWAYS M86.39 | POSSIBLE REQUIREMENT FOR CAUSATIVE AGENT CODE
CorrelationSNOMED CT source code to target map code correlation not specified
TargetD64.4
RuleTRUE
AdviceALWAYS D64.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetL98.8
RuleTRUE
AdviceALWAYS L98.8
CorrelationSNOMED CT source code to target map code correlation not specified