carney complex

Preferred Label : carney complex;

MeSH definition : Autosomal dominant syndrome characterized by cardiac and cutaneous MYXOMAS; LENTIGINOSIS (spotty pigmentation of the skin), and endocrinopathy and its associated endocrine tumors. The cardiac myxomas may lead to SUDDEN CARDIAC DEATH and other complications in Carney complex patients. The gene coding for the PRKAR1A protein is one of the causative genetic loci (type 1). A second locus is at chromosome 2p16 (type 2).;

MeSH synonym : carney Myxoma-Endocrine complex; complex, carney; complex, carney Myxoma-Endocrine; LAMB syndrome; LAMB syndromes; NAME syndrome; NAME syndromes; syndrome, carney; syndrome, LAMB; syndromes, LAMB; myxoma, spotty pigmentation, and endocrine overactivity; carney myxoma endocrine complex; Myxoma-Endocrine complex, carney; carney syndrome; LAMB - lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome; nevi, atrial myxoma, skin myxoma, ephelides syndrome;

CISMeF synonym : syndrome, NAME; syndromes, NAME;

MeSH hyponym : carney complex, type 2; carney complex, type 1; Carney Complex, Type I; Carney Myxoma-Endocrine Complex, Type II; Carney Myxoma Endocrine Complex, Type II; Carney Complex, Type II;

Wikipedia link : https://en.wikipedia.org/wiki/Carney complex;

Details

Origin ID

D056733;

UMLS CUI

C0406810;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Carney complex, type 2 [OMIM Phenotype]
- LAMB syndrome [MedDRA LLT]
- LAMB syndrome [ICD-11 More detail]
- NAME syndrome [ICD-11 More detail]
- NAME syndrome [MedDRA LLT]
- NAME syndrome [ORDO Disease]
- protein kinase cAMP-dependent type I regulatory subunit alpha [ORDO Gene]
- protein kinase cAMP-dependent type I regulatory subunit alpha [HGNC gene]
Currated CISMeF NLP mapping
- Atrial myxoma with lentigines (disorder) [Inactive SNOMED CT concept]
- Carney Complex [NCIt concept]
- Carney complex [PASCAL descriptor]
- Carney complex [MedDRA Preferred Term]
- Carney complex [DO Concept]
- Carney complex [Disease (Nov.)]
- Carney complex [ICD-11 More detail]
- Carney complex [ORDO Disease]
- Carney complex (disorder) [SNOMED CT concept]
- Carney complex, type 1 [OMIM Phenotype]
- Carney syndrome [PASCAL descriptor]
DO Cross reference
- Carney complex [DO Concept]
Manual NTBT mappings (CISMeF)
- ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia [ORDO Disease]
- Genetic hyperpigmentation of the skin [ORDO Disease]
- Hyperpigmentation of the skin [ORDO Disease]
- Mesenchymatous palpebral tumor [ORDO Disease]
- Palpebral lentiginosis [ORDO Disease]
- Rare cardiac tumor [ORDO Disease]
- Rare developmental defect with skin/mucosae involvement [ORDO Disease]
- Rare genetic tumor [ORDO Disease]
ORDO relation(s)
- Carney complex [ORDO Disease]
Record concept(s)
- carney complex [MeSH concept]
- carney complex, type 1 [MeSH concept]
- carney complex, type 2 [MeSH concept]
Related MeSH Supplementary Concept(s)
- carney complex variant [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Atrial myxoma with lentigines (disorder) [Inactive SNOMED CT concept]
- Carney Complex [NCIt concept]
- Carney complex [MedDRA Preferred Term]
- Carney complex (disorder) [SNOMED CT concept]
- LAMB syndrome [MedDRA LLT]
- NAME syndrome [MedDRA LLT]
Validated automatic mappings to BTNT
- Carney complex type 1 [Disease (Nov.)]
- Carney complex type 2 [Disease (Nov.)]

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