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syndroom van macrocefalie, alopecia, cutis laxa en scoliose (aandoening)
syndroom van macrocefalie, alopecia, cutis laxa en scoliose
RIN2-syndroom
MACS-syndroom
MACS syndrome
Tall forehead, sparse hair, skin hyperextensibility, scoliosis syndrome
RIN2 deficiency
MACS (macrocephaly, alopecia, cutis laxa, scoliosis) syndrome
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
A very rare inherited connective tissue disorder with characteristics of macrocephaly, sparse scalp hair, soft redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rare manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. Caused by homozygous mutation in the RIN2 gene on chromosome 20p11.
Id723367005
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified