FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
5081521000241113 dysplasie thoracique court fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


10 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Short rib dysplasia Is a Short rib dysplasia group (with or without polydactyly) 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 Congenital dysplasia false Inferred relationship Some 1
Short rib dysplasia Is a Congenital anomaly of rib true Inferred relationship Some
Short rib dysplasia Associated morphology Congenital dysplasia 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 Congenital dysplasia false Inferred relationship Some 2
Short rib dysplasia Associated morphology Congenital dysplasia 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 Congenital skeletal dysplasia (disorder) true Inferred relationship Some
Short rib dysplasia Is a Genetic disease true Inferred relationship Some
Short rib dysplasia Is a Congenital dysplasia of thorax (disorder) 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
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including trident aspect of the acetabula and metaphyseal changes. Is a True Short rib dysplasia Inferred relationship Some
An extremely rare, lethal, primary bone dysplasia characterized by 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
A rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are 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

GB English

US English

Back to Start