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766881008: syndrome complexe de Carney-trismus-pseudocamptodactylie (trouble)

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
768541000241111 syndrome complexe de Carney-trismus-pseudocamptodactylie (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
942581000172113 syndrome complexe de Carney-trismus-pseudocamptodactylie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
968991000172110 variant du complexe de Carney fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core 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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Carney complex, trismus, pseudocamptodactyly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Carney complex, trismus, pseudocamptodactyly syndrome est un(e) (attribut) maladie cardiaque congénitale 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 morphologie associée (attribut) Hyperpigmentation (morphologic abnormality) true Inferred relationship Some 3
Carney complex, trismus, pseudocamptodactyly syndrome morphologie associée (attribut) dysplasie true Inferred relationship Some 2
Carney complex, trismus, pseudocamptodactyly syndrome est un(e) (attribut) hyperpigmentation de la peau true Inferred relationship Some
Carney complex, trismus, pseudocamptodactyly syndrome est un(e) (attribut) Dysostosis true Inferred relationship Some
Carney complex, trismus, pseudocamptodactyly syndrome est un(e) (attribut) anomalies congénitales de pigmentation de la peau true Inferred relationship Some
Carney complex, trismus, pseudocamptodactyly syndrome localisation d'une constatation (attribut) cœur true Inferred relationship Some 1
Carney complex, trismus, pseudocamptodactyly syndrome survenue (attribut) congénital true Inferred relationship Some 3
Carney complex, trismus, pseudocamptodactyly syndrome survenue (attribut) congénital true Inferred relationship Some 2
Carney complex, trismus, pseudocamptodactyly syndrome morphologie associée (attribut) Congenital hyperpigmentation (morphologic abnormality) false Inferred relationship Some 2
Carney complex, trismus, pseudocamptodactyly syndrome est un(e) (attribut) Myxoma of heart (disorder) true Inferred relationship Some
Carney complex, trismus, pseudocamptodactyly syndrome morphologie associée (attribut) Myxomatous neoplasm true Inferred relationship Some 1
Carney complex, trismus, pseudocamptodactyly syndrome est un(e) (attribut) Congenital anomaly of limb true Inferred relationship Some
Carney complex, trismus, pseudocamptodactyly syndrome survenue (attribut) congénital true Inferred relationship Some 1
Carney complex, trismus, pseudocamptodactyly syndrome est un(e) (attribut) Congenital cardiovascular disorder (disorder) true Inferred relationship Some
Carney complex, trismus, pseudocamptodactyly syndrome localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 2
Carney complex, trismus, pseudocamptodactyly syndrome est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Carney complex, trismus, pseudocamptodactyly syndrome est un(e) (attribut) affection dégénérative false Inferred relationship Some
Carney complex, trismus, pseudocamptodactyly syndrome localisation d'une constatation (attribut) Bone structure of extremity false Inferred relationship Some 1
Carney complex, trismus, pseudocamptodactyly syndrome localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 3
Carney complex, trismus, pseudocamptodactyly syndrome morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Carney complex, trismus, pseudocamptodactyly syndrome morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Carney complex, trismus, pseudocamptodactyly syndrome localisation d'une constatation (attribut) Bone structure of extremity true Inferred relationship Some 2
Carney complex, trismus, pseudocamptodactyly syndrome morphologie associée (attribut) Myxomatous neoplasm false Inferred relationship Some 3
Carney complex, trismus, pseudocamptodactyly syndrome localisation d'une constatation (attribut) cœur false Inferred relationship Some 3
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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