FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

733491005: Carney complex (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3499550016 Carney complex en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499551017 Carney syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499552012 Myxoma, spotty pigmentation, endocrine overactivity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5074414016 LAMB (lentigines, atrial myxoma, blue nevi) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5084982014 LAMB (lentigines, atrial myxoma, blue naevi) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403807011 A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403808018 A rare endocrine disease characterised by lentigines with a specific peri-orifical distribution, blue naevus, myxomas, various endocrine tumours including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumours, and a wide range of other tumours. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499549016 Carney complex (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499550016 Carney complex en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499551017 Carney syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499552012 Myxoma, spotty pigmentation, endocrine overactivity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5074414016 LAMB (lentigines, atrial myxoma, blue nevi) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5084982014 LAMB (lentigines, atrial myxoma, blue naevi) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5403807011 A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403808018 A rare endocrine disease characterised by lentigines with a specific peri-orifical distribution, blue naevus, myxomas, various endocrine tumours including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumours, and a wide range of other tumours. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3430301001000116 Carney-Komplex de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
944221000172118 complexe de Carney fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
985451000172118 syndrome de Carney fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
944221000172118 complexe de Carney fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
985451000172118 syndrome de Carney fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3430301001000116 Carney-Komplex de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Carney complex (disorder) Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Carney complex (disorder) Is a Congenital pigmentary skin anomalies false Inferred relationship Existential restriction modifier (core metadata concept)
Carney complex (disorder) Is a Polyglandular hyperfunction true Inferred relationship Existential restriction modifier (core metadata concept)
Carney complex (disorder) Is a Degenerative disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Carney complex (disorder) Is a Cardiovascular system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Carney complex (disorder) Is a Hereditary disorder of endocrine system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Carney complex (disorder) Is a Myxoma of heart (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Carney complex (disorder) Is a Genetic disorder of skin pigmentation (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Carney complex (disorder) Associated morphology Myxomatous neoplasm (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Carney complex (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Carney complex (disorder) Finding site Heart structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Carney complex (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Carney complex (disorder) Finding site Structure of multiple endocrine glands (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Carney complex (disorder) Associated morphology Congenital hyperpigmentation false Inferred relationship Existential restriction modifier (core metadata concept) 5
Carney complex (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Carney complex (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Carney complex (disorder) Finding site Structure of multiple endocrine glands (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Carney complex (disorder) Is a Congenital cardiovascular disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Carney complex (disorder) Is a Congenital heart disease (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Carney complex (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Carney complex (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Carney complex (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Carney complex (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Carney complex (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Carney complex (disorder) Associated morphology Myxomatous neoplasm (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Carney complex (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Carney complex (disorder) Finding site Heart structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Carney complex (disorder) Associated morphology Hyperpigmentation (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Carney complex (disorder) Is a Hyperpigmentation of skin true Inferred relationship Existential restriction modifier (core metadata concept)
Carney complex (disorder) Is a Developmental hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Carney complex (disorder) Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Carney complex-associated-primary pigmented nodular adrenocortical disease (disorder) Is a True Carney complex (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start