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105986008: Congenital skeletal dysplasia (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
170405012 Skeletal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2764211017 Congenital skeletal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3758347014 Osteochondrodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3758348016 Osteodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
576961012 Congenital skeletal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

606 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Skeletal dysplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Skeletal dysplasia est un(e) (attribut) Congenital anomaly of musculoskeletal system true Inferred relationship Some
Skeletal dysplasia morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Skeletal dysplasia est un(e) (attribut) Disorder of skeletal system true Inferred relationship Some
Skeletal dysplasia est un(e) (attribut) Congenital anomaly of skeletal bone false Inferred relationship Some
Skeletal dysplasia est un(e) (attribut) Congenital malformation false Inferred relationship Some
Skeletal dysplasia morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Skeletal dysplasia localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 1
Skeletal dysplasia survenue (attribut) congénital false Inferred relationship Some
Skeletal dysplasia morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Skeletal dysplasia localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 1
Skeletal dysplasia localisation d'une constatation (attribut) Skeletal system structure true Inferred relationship Some 1
Skeletal dysplasia survenue (attribut) congénital false Inferred relationship Some 2
Skeletal dysplasia localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 2
Skeletal dysplasia morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Skeletal dysplasia survenue (attribut) congénital true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Rhizomelic dysplasia of Patterson Lowry type (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Heide syndrome est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Defects of tubular bones and spine (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Craniofacial conodysplasia syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Frank-Ter Haar syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
dysplasie phalango-épiphysaire en ailes d'anges est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Caudal regression syndrome est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Ballard syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Osteocraniostenosis (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
syndrome de dysplasie osseuse terminale-défauts de pigmentation est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Craniolenticulosutural dysplasia (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Omodysplasia (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Skeletal dysplasia brachydactyly syndrome est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Defects of the tubular (and flat) bones and/or axial skeleton est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Epiphyseal dysplasia est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Brachyrachia (short spine dysplasia) est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Dysplasias with significant membranous bone involvement est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Multiple dislocations with dysplasia est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Osteodysplastic primordial dwarfism est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Dysplasia with decreased bone density est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Dysplasia with defective mineralization est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Dysplasia with increased bone density est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Disorganised development of cartilaginous and fibrous components of the skeleton est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Idiopathic osteolyses est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Spondyloperipheral dysplasia (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
foramen pariétal avechypoplasie claviculaire est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Spondylodysplastic group est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Short rib dysplasia group (with or without polydactyly) est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Kniest-Stickler dysplasia group est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Spondyloepiphyseal dysplasia congenita est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Chondrodysplasia punctata est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Bent bone dysplasia group est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Dysostosis multiplex group est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Acromesomelic dysplasia syndrome est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some

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