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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
3663000011 Carney complex, trismus, pseudocamptodactyly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3663001010 Carney complex variant en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3663002015 Carney complex, trismus, pseudocamptodactyly syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404692017 Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by 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
5404693010 Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterised by 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

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 Congenital hyperpigmentation 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 false 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) true 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 Congenital dysplasia false Inferred relationship Some 1
Carney complex, trismus, pseudocamptodactyly syndrome Associated morphology Congenital dysplasia 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 false 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 false 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
Carney complex, trismus, pseudocamptodactyly syndrome Is a Congenital dysplasia of limb (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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