720612000: Cardiospondylocarpofacial syndrome (disorder)

Descriptions:

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cardiospondylocarpofacial syndrome (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Cardiospondylocarpofacial syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Cardiospondylocarpofacial syndrome (disorder)	Is a	Conductive hearing loss	true	Inferred relationship	Some
Cardiospondylocarpofacial syndrome (disorder)	Is a	Mitral valve regurgitation	false	Inferred relationship	Some
Cardiospondylocarpofacial syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Cardiospondylocarpofacial syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Cardiospondylocarpofacial syndrome (disorder)	Is a	Short stature disorder	true	Inferred relationship	Some
Cardiospondylocarpofacial syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Cardiospondylocarpofacial syndrome (disorder)	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Cardiospondylocarpofacial syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Cardiospondylocarpofacial syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Cardiospondylocarpofacial syndrome (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	4
Cardiospondylocarpofacial syndrome (disorder)	Interprets	Hearing	false	Inferred relationship	Some	3
Cardiospondylocarpofacial syndrome (disorder)	Interprets	Functional observable	false	Inferred relationship	Some
Cardiospondylocarpofacial syndrome (disorder)	Associated morphology	Valvular insufficiency (morphologic abnormality)	false	Inferred relationship	Some	5
Cardiospondylocarpofacial syndrome (disorder)	Finding site	Mitral valve structure	false	Inferred relationship	Some	5
Cardiospondylocarpofacial syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	6
Cardiospondylocarpofacial syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Cardiospondylocarpofacial syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	6
Cardiospondylocarpofacial syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Cardiospondylocarpofacial syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cardiospondylocarpofacial syndrome (disorder)	Associated morphology	Valvular insufficiency (morphologic abnormality)	true	Inferred relationship	Some	1
Cardiospondylocarpofacial syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Cardiospondylocarpofacial syndrome (disorder)	Finding site	Mitral valve structure	true	Inferred relationship	Some	1
Cardiospondylocarpofacial syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	2
Cardiospondylocarpofacial syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Cardiospondylocarpofacial syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Cardiospondylocarpofacial syndrome (disorder)	Interprets	Height / growth measure	false	Inferred relationship	Some	5
Cardiospondylocarpofacial syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6
Cardiospondylocarpofacial syndrome (disorder)	Interprets	Cardiac function	true	Inferred relationship	Some	6
Cardiospondylocarpofacial syndrome (disorder)	Is a	Congenital insufficiency of mitral valve (disorder)	true	Inferred relationship	Some
Cardiospondylocarpofacial syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Cardiospondylocarpofacial syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	4
Cardiospondylocarpofacial syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Cardiospondylocarpofacial syndrome (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	3
Cardiospondylocarpofacial syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Cardiospondylocarpofacial syndrome (disorder)	Finding site	Ear structure	true	Inferred relationship	Some	5
Cardiospondylocarpofacial syndrome (disorder)	Is a	Congenital anomaly of ear with impairment of hearing	true	Inferred relationship	Some
Cardiospondylocarpofacial syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	5
Cardiospondylocarpofacial syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	5
Cardiospondylocarpofacial syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
3321537011	Cardiospondylocarpofacial syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321538018	Cardiospondylocarpofacial syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321539014	Forney syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321540011	Forney Robinson Pascoe syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321541010	Mitral regurgitation with deafness and skeletal anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321542015	This syndrome has characteristics of mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
966441000172114	syndrome cardio-spondylo-carpo-facial	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1013881000172117	syndrome d'anomalie de la valve mitrale, surdité, anomalie squelettique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
935921000172114	mitralisregurgitatie, doofheid, skeletale anomalieën-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1006591000172111	cardiospondylocarpofaciaal syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
2122161000172112	syndroom van Forney-Robinson-Pascoe	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
2122171000172115	syndroom van Forney	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
2122181000172117	"syndroom van mitralisklepinsufficiëntie, doofheid en skeletafwijkingen"	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5992681000172118	syndroom van mitralisklepinsufficiëntie, doofheid en skeletafwijkingen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)