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205484001: Short rib polydactyly syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
315103013 Short rib polydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
590857018 Short rib polydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2996681000005116 kort costa-polydaktylisyndrom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


5 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Short rib polydactyly syndrome Is a kort costa-dysplasi-gruppen (med eller uden polydaktyli) false Inferred relationship Some
Short rib polydactyly syndrome Occurrence Congenital false Inferred relationship Some
Short rib polydactyly syndrome Finding site Skeletal system structure false Inferred relationship Some 1
Short rib polydactyly syndrome Associated morphology Dysplasia false Inferred relationship Some 1
Short rib polydactyly syndrome Finding site Bone structure false Inferred relationship Some 1
Short rib polydactyly syndrome Associated morphology kongenit dysplasi false Inferred relationship Some 1
Short rib polydactyly syndrome Finding site Bone structure false Inferred relationship Some 1
Short rib polydactyly syndrome Associated morphology kongenit dysplasi false Inferred relationship Some 1
Short rib polydactyly syndrome Occurrence Congenital true Inferred relationship Some 2
Short rib polydactyly syndrome Finding site Bone structure false Inferred relationship Some 2
Short rib polydactyly syndrome Associated morphology kongenit dysplasi false Inferred relationship Some 2
Short rib polydactyly syndrome Occurrence Congenital true Inferred relationship Some 1
Short rib polydactyly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Short rib polydactyly syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Short rib polydactyly syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Short rib polydactyly syndrome Is a Short rib dysplasia true Inferred relationship Some
Short rib polydactyly syndrome Is a Polydactyly true Inferred relationship Some
Short rib polydactyly syndrome Finding site Digit structure true Inferred relationship Some 1
Short rib polydactyly syndrome Associated morphology Supernumerary structure true Inferred relationship Some 1
Short rib polydactyly syndrome Associated morphology Dysplasia true Inferred relationship Some 2
Short rib polydactyly syndrome Finding site Bone structure of rib true Inferred relationship Some 2
Short rib polydactyly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Short rib polydactyly syndrome Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Short rib-polydactyly syndrome, Majewski type Is a True Short rib polydactyly syndrome Inferred relationship Some
Type III short rib polydactyly syndrome Is a True Short rib polydactyly syndrome Inferred relationship Some
Type IV short rib polydactyly syndrome Is a True Short rib polydactyly syndrome Inferred relationship Some
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. Is a True Short rib polydactyly syndrome Inferred relationship Some
A rare ciliopathy with major skeletal involvement characterized by short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet, and hypoplastic scapulae. Additional hallmarks of ciliopathic disease, such as laterality defects and cystic kidneys, have also been observed. Is a True Short rib polydactyly syndrome Inferred relationship Some

Reference Sets

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