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720612000: cardiospondylocarpofaciaal syndroom (aandoening)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 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
6256421000146117 cardiospondylocarpofaciaal syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6256431000146115 cardiospondylocarpofaciaal syndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6947921000146111 syndroom van Forney-Robinson-Pascoe nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7016441000146111 syndroom van Forney nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7016451000146114 syndroom van mitralisklepinsufficiëntie, doofheid en skeletafwijkingen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

0 descendants.

Expanded Value Set

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 observatie betreffende functioneren 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 gebrekkige ontwikkeling (afwijkende morfologie) 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
Cardiospondylocarpofacial syndrome (disorder) Is a Congenital hearing loss (disorder) false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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