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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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Short rib polydactyly syndrome type I (disorder) Is a Micromelia true Inferred relationship Some
Short rib polydactyly syndrome type I (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Short rib polydactyly syndrome type I (disorder) Is a Congenital anomaly of rib false Inferred relationship Some
Short rib polydactyly syndrome type I (disorder) Is a Short rib polydactyly syndrome true Inferred relationship Some
Short rib polydactyly syndrome type I (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Short rib polydactyly syndrome type I (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Short rib polydactyly syndrome type I (disorder) Is a Polydactyly (disorder) false Inferred relationship Some
Short rib polydactyly syndrome type I (disorder) Occurrence Congenital false Inferred relationship Some 5
Short rib polydactyly syndrome type I (disorder) Occurrence Congenital false Inferred relationship Some 6
Short rib polydactyly syndrome type I (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 7
Short rib polydactyly syndrome type I (disorder) Occurrence Congenital false Inferred relationship Some 7
Short rib polydactyly syndrome type I (disorder) Finding site Bone structure of rib false Inferred relationship Some 7
Short rib polydactyly syndrome type I (disorder) Occurrence Congenital false Inferred relationship Some 8
Short rib polydactyly syndrome type I (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 6
Short rib polydactyly syndrome type I (disorder) Finding site Bone structure false Inferred relationship Some 6
Short rib polydactyly syndrome type I (disorder) Associated morphology Congenital smallness false Inferred relationship Some 5
Short rib polydactyly syndrome type I (disorder) Finding site Entire limb false Inferred relationship Some 5
Short rib polydactyly syndrome type I (disorder) Associated morphology Supernumerary structure false Inferred relationship Some 8
Short rib polydactyly syndrome type I (disorder) Finding site Digit structure false Inferred relationship Some 8
Short rib polydactyly syndrome type I (disorder) Occurrence Congenital true Inferred relationship Some 3
Short rib polydactyly syndrome type I (disorder) Associated morphology Supernumerary structure true Inferred relationship Some 1
Short rib polydactyly syndrome type I (disorder) Occurrence Congenital true Inferred relationship Some 2
Short rib polydactyly syndrome type I (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Short rib polydactyly syndrome type I (disorder) Occurrence Congenital true Inferred relationship Some 1
Short rib polydactyly syndrome type I (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Short rib polydactyly syndrome type I (disorder) Finding site Digit structure true Inferred relationship Some 1
Short rib polydactyly syndrome type I (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Short rib polydactyly syndrome type I (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Short rib polydactyly syndrome type I (disorder) Occurrence Congenital false Inferred relationship Some 4
Short rib polydactyly syndrome type I (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Short rib polydactyly syndrome type I (disorder) Finding site Entire limb true Inferred relationship Some 2
Short rib polydactyly syndrome type I (disorder) Associated morphology Congenital smallness false Inferred relationship Some 2
Short rib polydactyly syndrome type I (disorder) Finding site Bone structure false Inferred relationship Some 3
Short rib polydactyly syndrome type I (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 4
Short rib polydactyly syndrome type I (disorder) Finding site Bone structure of rib false Inferred relationship Some 4
Short rib polydactyly syndrome type I (disorder) Associated morphology Dysplasia true Inferred relationship Some 3
Short rib polydactyly syndrome type I (disorder) Finding site Bone structure of rib true Inferred relationship Some 3
Short rib polydactyly syndrome type I (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

GB English

US English

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