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766881008: Carney complex, trismus, pseudocamptodactyly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3663000011 Carney complex, trismus, pseudocamptodactyly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3663001010 Carney complex variant en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3663002015 Carney complex, trismus, pseudocamptodactyly syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3663003013 A rare genetic heart-hand syndrome with characteristics of typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
4167841000052114 syndrom med Carney-komplex, trismus och pseudokamptodaktyli sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Carney complex, trismus, pseudocamptodactyly syndrome Is a Dysostosis true Inferred relationship Some
Carney complex, trismus, pseudocamptodactyly syndrome Is a Congenital pigmentary skin anomalies true Inferred relationship Some
Carney complex, trismus, pseudocamptodactyly syndrome Finding site Heart structure true Inferred relationship Some 1
Carney complex, trismus, pseudocamptodactyly syndrome Occurrence Congenital true Inferred relationship Some 3
Carney complex, trismus, pseudocamptodactyly syndrome Occurrence Congenital true Inferred relationship Some 2
Carney complex, trismus, pseudocamptodactyly syndrome Associated morphology kongenital hyperpigmentering false Inferred relationship Some 2
Carney complex, trismus, pseudocamptodactyly syndrome Is a Myxoma of heart (disorder) true Inferred relationship Some
Carney complex, trismus, pseudocamptodactyly syndrome Associated morphology Myxomatous neoplasm true Inferred relationship Some 1
Carney complex, trismus, pseudocamptodactyly syndrome Is a Congenital anomaly of limb true Inferred relationship Some
Carney complex, trismus, pseudocamptodactyly syndrome Occurrence Congenital true Inferred relationship Some 1
Carney complex, trismus, pseudocamptodactyly syndrome Is a Congenital cardiovascular disorder (disorder) false Inferred relationship Some
Carney complex, trismus, pseudocamptodactyly syndrome Finding site Skin structure false Inferred relationship Some 2
Carney complex, trismus, pseudocamptodactyly syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Carney complex, trismus, pseudocamptodactyly syndrome Is a Degenerative disorder false Inferred relationship Some
Carney complex, trismus, pseudocamptodactyly syndrome Finding site Bone structure of extremity false Inferred relationship Some 1
Carney complex, trismus, pseudocamptodactyly syndrome Finding site Skin structure true Inferred relationship Some 3
Carney complex, trismus, pseudocamptodactyly syndrome Associated morphology kongenital dysplasi false Inferred relationship Some 1
Carney complex, trismus, pseudocamptodactyly syndrome Associated morphology kongenital dysplasi false Inferred relationship Some 2
Carney complex, trismus, pseudocamptodactyly syndrome Finding site Bone structure of extremity true Inferred relationship Some 2
Carney complex, trismus, pseudocamptodactyly syndrome Associated morphology Myxomatous neoplasm false Inferred relationship Some 3
Carney complex, trismus, pseudocamptodactyly syndrome Finding site Heart structure false Inferred relationship Some 3
Carney complex, trismus, pseudocamptodactyly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Carney complex, trismus, pseudocamptodactyly syndrome Is a Congenital heart disease true Inferred relationship Some
Carney complex, trismus, pseudocamptodactyly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Carney complex, trismus, pseudocamptodactyly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Carney complex, trismus, pseudocamptodactyly syndrome Associated morphology Hyperpigmentation true Inferred relationship Some 3
Carney complex, trismus, pseudocamptodactyly syndrome Associated morphology Dysplasia true Inferred relationship Some 2
Carney complex, trismus, pseudocamptodactyly syndrome Is a Hyperpigmentation of skin true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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