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laryngo-onycho-cutaan syndroom (aandoening)
laryngo-onycho-cutaan syndroom
LOC-syndroom
Laryngo-onycho-cutaneous syndrome
LOC syndrome
Laryngoonychocutaneous syndrome
Shabbir syndrome
LOGIC syndrome
LOC syndrome is a subtype of junctional epidermolysis bullosa with characteristics of an altered cry in the neonatal period and aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Fewer than 50 cases have been reported to date, mostly in consanguineous families from the Punjabi region of Pakistan and India. The condition is present at birth. The condition is associated with mutations in the alpha-3 chain of laminin-332 (LAMA3). Follows an autosomal recessive pattern of inheritance. Prognosis is poor.
Id722675000
StatusPrimitive
Associated morphologyepidermolyse
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ81.8
TermOverige gespecificeerde vormen van epidermolysis bullosa
SNOMED CT to Orphanet simple map2407
SNOMED CT to ICD-10 extended map
TargetQ81.8
RuleTRUE
AdviceALWAYS Q81.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified