| 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. |
| | Id | 722675000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q81.8 | | Term | Overige gespecificeerde vormen van epidermolysis bullosa |
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| SNOMED CT to Orphanet simple map | 2407 |
| SNOMED CT to ICD-10 extended map | | Target | Q81.8 | | Rule | TRUE | | Advice | ALWAYS Q81.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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