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254050009: Short rib dysplasia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
378191016 Short rib dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
644889015 Short rib dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3035925018 Short rib syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3002981000005111 Kort costadysplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


10 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Short rib dysplasia Is a kort costa-dysplasi-gruppen (med eller uden polydaktyli) false Inferred relationship Some
Short rib dysplasia Is a Disorder of bone (disorder) false Inferred relationship Some
Short rib dysplasia Is a Disorder of thorax (disorder) false Inferred relationship Some
Short rib dysplasia Is a Congenital anomaly of trunk false Inferred relationship Some
Short rib dysplasia Occurrence Congenital false Inferred relationship Some
Short rib dysplasia Finding site Bone structure of rib true Inferred relationship Some 1
Short rib dysplasia Finding site Skeletal system structure false Inferred relationship Some 1
Short rib dysplasia Associated morphology Dysplasia true Inferred relationship Some 1
Short rib dysplasia Is a Disorder of trunk (disorder) false Inferred relationship Some
Short rib dysplasia Associated morphology kongenit dysplasi false Inferred relationship Some 1
Short rib dysplasia Is a Congenital anomaly of rib (disorder) true Inferred relationship Some
Short rib dysplasia Associated morphology kongenit dysplasi false Inferred relationship Some 1
Short rib dysplasia Finding site Bone structure of rib false Inferred relationship Some 1
Short rib dysplasia Is a Disorder of thorax (disorder) false Inferred relationship Some
Short rib dysplasia Is a Disorder of body wall (disorder) false Inferred relationship Some
Short rib dysplasia Occurrence Congenital false Inferred relationship Some 2
Short rib dysplasia Finding site Bone structure false Inferred relationship Some 2
Short rib dysplasia Associated morphology kongenit dysplasi false Inferred relationship Some 2
Short rib dysplasia Associated morphology kongenit dysplasi false Inferred relationship Some 3
Short rib dysplasia Finding site Bone structure of rib false Inferred relationship Some 3
Short rib dysplasia Occurrence Congenital false Inferred relationship Some 3
Short rib dysplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Short rib dysplasia Occurrence Congenital true Inferred relationship Some 1
Short rib dysplasia Is a Skeletal dysplasia true Inferred relationship Some
Short rib dysplasia Is a Genetic disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. Is a True Short rib dysplasia Inferred relationship Some
A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated with persistent respiratory manifestations. The growth rate is variable but may be almost normal. Intellectual development is normal. The molecular basis of the syndrome has been partially elucidated indicating involvement of the IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3) genes, each encoding an intraflagellar transport protein. The syndrome is transmitted as an autosomal recessive trait. Is a True Short rib dysplasia Inferred relationship Some
An extremely rare lethal primary bone dysplasia with characteristics of thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990. Is a False Short rib dysplasia Inferred relationship Some
An extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. Acetabular spurs and phalangeal cone-shaped epiphyses are not present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988. Is a True Short rib dysplasia Inferred relationship Some
Short rib polydactyly syndrome Is a True Short rib dysplasia Inferred relationship Some

Reference Sets

US English

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