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Carney-complex (aandoening)
Carney-complex
NAME-syndroom
syndroom van Carney
LAMB-syndroom
Carney complex
Carney syndrome
Myxoma, spotty pigmentation, endocrine overactivity syndrome
Carney complex (CNC) has characteristics of spotty skin pigmentation, endocrine overactivity and myxomas. The prevalence is unknown but it is a rare disease. Skin pigmentation anomalies include lentigines and blue nevi. The most common endocrine gland manifestations are acromegaly, thyroid and testicular neoplasms and adrenocorticotropic hormone (ACTH)-independent Cushing's syndrome. Myxomas can be observed in the heart, skin and breast. Cardiac myxomas can develop in any cardiac chamber and may be multiple. One of the putative CNC genes located on 17q22-24, (PRKAR1A), has been found to encode the regulatory subunit (R1A) of protein kinase A. Heterozygous inactivating mutations of PRKAR1A were reported initially in 45 to 65% of CNC index cases, and may be present in about 80% of the CNC families presenting mainly with Cushing's syndrome. CNC is a dominantly inherited syndrome.
Id733491005
StatusPrimitive
Associated morphologymyxomateus neoplasma
Finding sitestructuur van hart
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhyperpigmentatie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset voor pathologie
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetD44.8
RuleTRUE
AdviceALWAYS D44.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE
CorrelationSNOMED CT source code to target map code correlation not specified