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

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

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

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)

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)	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	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	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

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

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
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
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)