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1197589000: Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4697272011 Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4697273018 Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4697274012 Steel syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4697275013 A rare genetic bone disease with characteristics of short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described. Caused by homozygous or compound heterozygous mutation in the COL27A1 gene on chromosome 9q32. 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
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) est un(e) (attribut) Bilateral congenital dislocation of hip true Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) est un(e) (attribut) Injury of right lower limb (disorder) true Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) est un(e) (attribut) Injury of left lower limb (disorder) true Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) est un(e) (attribut) Injury of face true Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) est un(e) (attribut) insuffisance staturale true Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) est un(e) (attribut) Hip pathological dislocation true Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) est un(e) (attribut) Multiple dislocations with dysplasia true Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 6
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Due to Spontaneous event (event) true Inferred relationship Some 7
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) localisation d'une constatation (attribut) Skeletal system structure true Inferred relationship Some 1
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 2
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) localisation d'une constatation (attribut) Left hip joint structure true Inferred relationship Some 3
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) morphologie associée (attribut) Dislocation true Inferred relationship Some 3
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) localisation d'une constatation (attribut) Right hip joint structure true Inferred relationship Some 4
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) morphologie associée (attribut) Dislocation true Inferred relationship Some 4
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) localisation d'une constatation (attribut) Joint structure of multiple body sites (body structure) true Inferred relationship Some 5
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) morphologie associée (attribut) Dislocation true Inferred relationship Some 5
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) interprète (attribut) mesure de la taille corporelle true Inferred relationship Some 8
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 8

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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