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720612000: Cardiospondylocarpofacial syndrome (disorder)

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
5402437016 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402438014 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastro-oesophageal reflux and genitourinary anomalies, among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321537011 Cardiospondylocarpofacial syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character case insensitive (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
5402437016 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402438014 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastro-oesophageal reflux and genitourinary anomalies, among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3439181001000116 Kardio-spondylo-carpo-faziales Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
966441000172114 syndrome cardio-spondylo-carpo-facial fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1013881000172117 syndrome d'anomalie de la valve mitrale, surdité, anomalie squelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
966441000172114 syndrome cardio-spondylo-carpo-facial fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1013881000172117 syndrome d'anomalie de la valve mitrale, surdité, anomalie squelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3439181001000116 Kardio-spondylo-carpo-faziales 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
Cardiospondylocarpofacial syndrome (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Cardiospondylocarpofacial syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Cardiospondylocarpofacial syndrome (disorder) Is a Conductive hearing loss true Inferred relationship Existential restriction modifier (core metadata concept)
Cardiospondylocarpofacial syndrome (disorder) Is a Mitral valve regurgitation false Inferred relationship Existential restriction modifier (core metadata concept)
Cardiospondylocarpofacial syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Cardiospondylocarpofacial syndrome (disorder) Is a Congenital hearing disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Cardiospondylocarpofacial syndrome (disorder) Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cardiospondylocarpofacial syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Cardiospondylocarpofacial syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Cardiospondylocarpofacial syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Cardiospondylocarpofacial syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Cardiospondylocarpofacial syndrome (disorder) Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Cardiospondylocarpofacial syndrome (disorder) Interprets Hearing false Inferred relationship Existential restriction modifier (core metadata concept) 3
Cardiospondylocarpofacial syndrome (disorder) Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
Cardiospondylocarpofacial syndrome (disorder) Associated morphology Structural abnormality in which a valve fails to close properly. This includes abnormalities of the valve leaflets as well as so-called functional insufficiency due to other abnormalities such as annular dilatation in the presence of morphologically normal leaflets. false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cardiospondylocarpofacial syndrome (disorder) Finding site Mitral valve structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cardiospondylocarpofacial syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cardiospondylocarpofacial syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cardiospondylocarpofacial syndrome (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cardiospondylocarpofacial syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cardiospondylocarpofacial syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cardiospondylocarpofacial syndrome (disorder) Associated morphology Structural abnormality in which a valve fails to close properly. This includes abnormalities of the valve leaflets as well as so-called functional insufficiency due to other abnormalities such as annular dilatation in the presence of morphologically normal leaflets. true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cardiospondylocarpofacial syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cardiospondylocarpofacial syndrome (disorder) Finding site Mitral valve structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cardiospondylocarpofacial syndrome (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cardiospondylocarpofacial syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cardiospondylocarpofacial syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Cardiospondylocarpofacial syndrome (disorder) Interprets Height / growth measure (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cardiospondylocarpofacial syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Cardiospondylocarpofacial syndrome (disorder) Interprets Cardiac function true Inferred relationship Existential restriction modifier (core metadata concept) 6
Cardiospondylocarpofacial syndrome (disorder) Is a Congenital insufficiency of mitral valve true Inferred relationship Existential restriction modifier (core metadata concept)
Cardiospondylocarpofacial syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cardiospondylocarpofacial syndrome (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cardiospondylocarpofacial syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cardiospondylocarpofacial syndrome (disorder) Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cardiospondylocarpofacial syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cardiospondylocarpofacial syndrome (disorder) Finding site Ear structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Cardiospondylocarpofacial syndrome (disorder) Is a Congenital anomaly of ear with impairment of hearing true Inferred relationship Existential restriction modifier (core metadata concept)
Cardiospondylocarpofacial syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Cardiospondylocarpofacial syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Cardiospondylocarpofacial syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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