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laminine-subeenheid alfa-5-gerelateerd multisystemisch syndroom (aandoening)
laminine-subeenheid alfa-5-gerelateerd multisystemisch syndroom
LAMA5-gerelateerd multisystemisch syndroom
LAMA5-related multisystemic syndrome
Laminin subunit alpha 5-related multisystemic syndrome
A rare genetic systemic or rheumatologic disease with characteristics of infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome and hypothyroidism. The phenotype has been reported to be more severe in women than in men.
Id1217370006
StatusPrimitive
ICD-10 complex map reference set
TargetM79.89
RuleTRUE
AdviceALWAYS M79.89 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified