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1197589000: syndroom van luxatie van beide heupen en caput radii, kleine gestalte, scoliose, fusie van os carpi, pes cavus en faciale dysmorfie (aandoening)


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
13595001000146117 syndroom van luxatie van beide heupen en caput radii, kleine gestalte, scoliose, fusie van os carpi, pes cavus en faciale dysmorfie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13595011000146115 Steel-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13595021000146113 syndroom van luxatie van linker en rechter heup en radiuskop, dwerggroei, scoliose, fusie van handwortelbeen, holvoet en faciale dysmorfie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13595031000146110 syndroom van luxatie van beide heupen en caput radii, kleine gestalte, scoliose, fusie van os carpi, pes cavus en faciale dysmorfie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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) Is a 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) Is a Injury of right lower limb (disorder) false Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Is a Injury of left lower limb (disorder) false Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Is a Injury of face true Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Is a Short stature disorder true Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Is a Hip pathological dislocation false Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Is a Multiple dislocations with dysplasia (disorder) true Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Is a 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) Is a 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) Is a 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) Clinical course Progressive (qualifier value) 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) Occurrence Congenital true Inferred relationship Some 1
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Finding site 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) Associated morphology Dysplasia 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) Occurrence Congenital true Inferred relationship Some 2
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Finding site Face structure true Inferred relationship Some 2
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) 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) Occurrence Congenital true Inferred relationship Some 3
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Finding site 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) Associated morphology 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) Occurrence Congenital true Inferred relationship Some 4
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Finding site 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) Associated morphology 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) Finding site 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) Associated morphology Dislocation true Inferred relationship Some 5
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Interprets Body height measure (observable entity) true Inferred relationship Some 8
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 8
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Is a Injury of right hip region (disorder) false Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Is a Injury of left hip region (disorder) false Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Is a Pathological dislocation of bilateral hips (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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