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syndroom van verstandelijke beperking, cataract, verkalkte oorschelp en myopathie (aandoening)
syndroom van verstandelijke beperking, cataract, verkalkte oorschelp en myopathie
syndroom van Primrose
syndroom van verstandelijke handicap, cataract, verkalkte oorschelp en myopathie
syndroom van mentale retardatie, cataract, verkalkte oorschelp en myopathie
Intellectual disability, cataract, calcified pinna, myopathy syndrome
Primrose syndrome
A rare genetic intellectual disability syndrome with characteristics of macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair and tall stature. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include hypothyroidism, cerebral calcification, ataxia and peripheral neuropathy. There is evidence this disease is caused by heterozygous mutation in the ZBTB20 gene on chromosome 3q13.
Id726709001
StatusPrimitive
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified