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autosomaal recessieve cutis laxa type 2A (aandoening)
autosomaal recessieve cutis laxa type 2A
Autosomal recessive cutis laxa type 2A
ARCL2A - autosomal recessive cutis laxa type 2A
A rare genetic dermis elastic tissue disease with characteristics of redundant, over folded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.
Id784381008
StatusPrimitive
Has interpretationonder referentiebereik
Interpretsbotdensitometrie
Associated morphologydysplasie
Finding sitebotstructuur
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