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720612000: Cardiospondylocarpofacial syndrome (disorder)

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3321537011 Cardiospondylocarpofacial syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3321538018 Cardiospondylocarpofacial syndrome en Synonym Active Case insensitive SNOMED CT core
3321539014 Forney syndrome en Synonym Active Case sensitive SNOMED CT core
3321540011 Forney Robinson Pascoe syndrome en Synonym Active Case sensitive SNOMED CT core
3321541010 Mitral regurgitation with deafness and skeletal anomalies syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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