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716098006: Congenital bowing of long bone (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304724016 Congenital bowing of long bone (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304725015 Congenital bowing of long bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
885641000172111 incurvation congénitale des os longs fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
907591000172115 incurvation des os longs fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3383651001000116 Kongenitale Verkrümmung der Röhrenknochen-Kleinwuchs-Dolichomakrozephalie-okulärer Hypertelorismus-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

12 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital bowing of long bone (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Congenital bowing of long bone (disorder) Is a déformation d'un os false Inferred relationship Some
Congenital bowing of long bone (disorder) Is a Congenital connective tissue disorder false Inferred relationship Some
Congenital bowing of long bone (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Some
Congenital bowing of long bone (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Congenital bowing of long bone (disorder) Associated morphology Bowing deformity true Inferred relationship Some 1
Congenital bowing of long bone (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital bowing of long bone (disorder) Finding site Structure of long bone true Inferred relationship Some 1
Congenital bowing of long bone (disorder) Is a Congenital disease false Inferred relationship Some
Congenital bowing of long bone (disorder) Is a constatation à propos d'une région corporelle false Inferred relationship Some
Congenital bowing of long bone (disorder) Is a Bowing deformity of bone true Inferred relationship Some
Congenital bowing of long bone (disorder) Is a Congenital deformity false Inferred relationship Some
Congenital bowing of long bone (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Congenital bowing of long bone (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital bowing of long bone (disorder) Is a Congenital deformity of musculoskeletal system (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Antley-Bixler syndrome Is a False Congenital bowing of long bone (disorder) Inferred relationship Some
A rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed. Is a True Congenital bowing of long bone (disorder) Inferred relationship Some
Congenital bowing of femur Is a True Congenital bowing of long bone (disorder) Inferred relationship Some
Genu recurvatum and long leg bone bowing Is a True Congenital bowing of long bone (disorder) Inferred relationship Some
Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities. Is a False Congenital bowing of long bone (disorder) Inferred relationship Some
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. Is a True Congenital bowing of long bone (disorder) Inferred relationship Some
Congenital bowing of ulna Is a True Congenital bowing of long bone (disorder) Inferred relationship Some
Congenital bowing of tibia and/or fibula (disorder) Is a True Congenital bowing of long bone (disorder) Inferred relationship Some

This concept is not in any reference sets

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