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726032008: Short rib polydactyly syndrome type I (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3447658010 Short rib polydactyly syndrome type I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3447659019 Short rib polydactyly syndrome Saldino Noonan type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3447660012 Saldino Noonan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447661011 Short rib polydactyly syndrome type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447662016 Short rib polydactyly syndrome type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5403521018 A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403522013 A rare ciliopathy with major skeletal involvement characterised by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447658010 Short rib polydactyly syndrome type I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3447659019 Short rib polydactyly syndrome Saldino Noonan type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3447660012 Saldino Noonan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447661011 Short rib polydactyly syndrome type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447662016 Short rib polydactyly syndrome type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3447663014 An extremely rare type of short rib polydactyly syndrome with neonatal onset. The disease has characteristics of polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia ('flipper-like’ extremities), pointed metaphyses and a range of other ossification defects. Extraskeletal manifestations may include polycystic kidneys, transposition of the great vessels and atresia of the gastrointestinal and genitourinary systems. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4361408015 An extremely rare type of short rib polydactyly syndrome with neonatal onset. The disease has characteristics of polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia (flipper-like extremities), pointed metaphyses and a range of other ossification defects. Extraskeletal manifestations may include polycystic kidneys, transposition of the great vessels and atresia of the gastrointestinal and genitourinary systems. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403521018 A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403522013 A rare ciliopathy with major skeletal involvement characterised by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3455071001000118 Kurzrippen-Polydaktylie-Syndrom Typ Saldino-Noonan de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5488961000241110 syndrome de côtes courtes et polydactylie de type I fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5488961000241110 syndrome de côtes courtes et polydactylie de type I fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3455071001000118 Kurzrippen-Polydaktylie-Syndrom Typ Saldino-Noonan 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
Short rib polydactyly syndrome Saldino Noonan type Is a Micromelia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Short rib polydactyly syndrome Saldino Noonan type Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Short rib polydactyly syndrome Saldino Noonan type Is a Congenital anomaly of rib false Inferred relationship Existential restriction modifier (core metadata concept)
Short rib polydactyly syndrome Saldino Noonan type Is a Short rib polydactyly syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Short rib polydactyly syndrome Saldino Noonan type Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Short rib polydactyly syndrome Saldino Noonan type Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Short rib polydactyly syndrome Saldino Noonan type Is a Polydactyly (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Short rib polydactyly syndrome Saldino Noonan type Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Short rib polydactyly syndrome Saldino Noonan type Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Short rib polydactyly syndrome Saldino Noonan type Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 7
Short rib polydactyly syndrome Saldino Noonan type Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Short rib polydactyly syndrome Saldino Noonan type Finding site Bone structure of rib false Inferred relationship Existential restriction modifier (core metadata concept) 7
Short rib polydactyly syndrome Saldino Noonan type Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Short rib polydactyly syndrome Saldino Noonan type Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 6
Short rib polydactyly syndrome Saldino Noonan type Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Short rib polydactyly syndrome Saldino Noonan type Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 5
Short rib polydactyly syndrome Saldino Noonan type Finding site Entire limb false Inferred relationship Existential restriction modifier (core metadata concept) 5
Short rib polydactyly syndrome Saldino Noonan type Associated morphology Supernumerary structure false Inferred relationship Existential restriction modifier (core metadata concept) 8
Short rib polydactyly syndrome Saldino Noonan type Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 8
Short rib polydactyly syndrome Saldino Noonan type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Short rib polydactyly syndrome Saldino Noonan type Associated morphology Supernumerary structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib polydactyly syndrome Saldino Noonan type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short rib polydactyly syndrome Saldino Noonan type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short rib polydactyly syndrome Saldino Noonan type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib polydactyly syndrome Saldino Noonan type Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Short rib polydactyly syndrome Saldino Noonan type Finding site Digit structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib polydactyly syndrome Saldino Noonan type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Short rib polydactyly syndrome Saldino Noonan type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib polydactyly syndrome Saldino Noonan type Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Short rib polydactyly syndrome Saldino Noonan type Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Short rib polydactyly syndrome Saldino Noonan type Finding site Entire limb true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short rib polydactyly syndrome Saldino Noonan type Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 2
Short rib polydactyly syndrome Saldino Noonan type Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Short rib polydactyly syndrome Saldino Noonan type Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Short rib polydactyly syndrome Saldino Noonan type Finding site Bone structure of rib false Inferred relationship Existential restriction modifier (core metadata concept) 4
Short rib polydactyly syndrome Saldino Noonan type Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Short rib polydactyly syndrome Saldino Noonan type Finding site Bone structure of rib true Inferred relationship Existential restriction modifier (core metadata concept) 3
Short rib polydactyly syndrome Saldino Noonan type Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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