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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
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
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
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
3415101001000118 Carney-Komplex-Trismus-Pseudokamptodaktylie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
942581000172113 syndrome complexe de Carney-trismus-pseudocamptodactylie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
968991000172110 variant du complexe de Carney fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
942581000172113 syndrome complexe de Carney-trismus-pseudocamptodactylie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
968991000172110 variant du complexe de Carney fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3415101001000118 Carney-Komplex-Trismus-Pseudokamptodaktylie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

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

Reference Sets

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

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