Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3499549016 | Carney complex (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
| 3499550016 | Carney complex | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3499551017 | Carney syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3499552012 | Myxoma, spotty pigmentation, endocrine overactivity syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5074414016 | LAMB (lentigines, atrial myxoma, blue nevi) syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 5084982014 | LAMB (lentigines, atrial myxoma, blue naevi) syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3500016016 | 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. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3777437011 | 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 naevi. 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. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Neoplasm and/or hamartoma reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set
FHIR