| Carney-complex (aandoening) | | Carney-complex | | LAMB-syndroom
NAME-syndroom
syndroom van Carney
| | Carney complex | | Carney syndrome
Myxoma, spotty pigmentation, endocrine overactivity syndrome
LAMB (lentigines, atrial myxoma, blue nevi) 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. |
| | Id | 733491005 | | Status | Primitive |
| PALGA thesaurus simple reference set for pathology |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D48.7 | | Term | Neoplasma met onzeker of onbekend gedrag van overige gespecificeerde lokalisaties |
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| SNOMED CT to Orphanet simple map | 1359 |
| SNOMED CT to ICD-10 extended map | | Target | D44.8 | | Rule | TRUE | | Advice | ALWAYS D44.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE | | Correlation | SNOMED CT source code to target map code correlation not specified |
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