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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
Ehlers-Danlos syndrome with periventricular heterotopia (disorder) est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Ehlers-Danlos syndrome cardiac valvular type (disorder) est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type (disorder) est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic type (disorder) est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Ehlers-Danlos syndrome vascular-like type (disorder) est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Brittle cornea syndrome (disorder) est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Pyknoachondrogenesis (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Patella dysplasia est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Familial osteodysplasia Anderson type (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Brachydactyly elbow wrist dysplasia (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Winchester syndrome est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Osteogenesis imperfecta est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Spondylometaphyseal dysplasia est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Otopalatodigital syndrome spectrum disorder est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Developmental dislocation of ankle and/or foot (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Developmental dislocation of joint of shoulder region (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Occipital dysplasia est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Saldino-Mainzer dysplasia est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Osteoarthritis of left hip joint due to dysplasia (disorder) Due to True Skeletal dysplasia Inferred relationship Some 2
Osteoarthritis of right hip joint due to dysplasia Due to True Skeletal dysplasia Inferred relationship Some 2
nanisme à tête d'oiseau est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Cutis laxa, x-linked (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Marshall-Smith syndrome est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Coxoauricular syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Short rib dysplasia est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Stickler syndrome est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Lethal Kniest-like syndrome est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
dysplasie de Kniest (trouble) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Kniest-Stickler dysplasia est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Thin ribs, tubular bones, dysmorphism syndrome est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Proteus syndrome est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Congenital dysplasia of bone caused by drug est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Osteosclerosis - Stanescu type est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Congenital glenoid dysplasia (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
dysplasie cranio-fronto-nasale est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Kosaki overgrowth syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
NEK9-related lethal skeletal dysplasia est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Lordosis deformity of spine due to congenital skeletal dysplasia Due to True Skeletal dysplasia Inferred relationship Some 2
Hallermann Streiff like syndrome est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Short stature, advanced bone age, early-onset osteoarthritis syndrome est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Osteofibrous dysplasia (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
dysplasie congénitale d'une hanche est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Chondrodysplasia punctata congenita est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Nail-patella syndrome est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Metatropic dysplasia (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Ehlers-Danlos syndrome est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
achondrogenèse (trouble) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Bone island est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Ectopic bone tissue, congenital est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Metaphyseal chondrodysplasia est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Weill-Marchesani syndrome est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
syndrome de céphalopolysyndactylie de Greig (trouble) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Osteoplastic dysplasia (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Ghosal hematodiaphyseal dysplasia est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Spondyloepiphyseal dysplasia congenita est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Leri's pleonosteosis syndrome est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Atelosteogenesis est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Ehlers-Danlos syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Osteochondrodysplasia with osteopetrosis (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Beals auriculo-osteodysplasia syndrome (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Hypochondroplasia est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Mesomelic dysplasia est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Multiple synostosis syndrome est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Antley-Bixler syndrome est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Accessory ossification center est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Brachydactyly syndrome type E est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Diaphyseal dysplasia est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Vitamin D-dependent rickets, type 1 est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Vitamin D-dependent rickets, type 2 est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Progressive myositis ossificans est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Miller syndrome est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Baller-Gerold syndrome est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Kyphosis in skeletal dysplasia associé à (attribut) True Skeletal dysplasia Inferred relationship Some 2
Ghosal hematodiaphyseal dysplasia est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Diaphyseal dysplasia est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Chondrodysplasia est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Osteodysplasia est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Dysostosis est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Symphalangism-brachydactyly syndrome est un(e) (attribut) False Skeletal dysplasia Inferred relationship Some
Chondroectodermal dysplasia est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Cherubism with gingival fibromatosis (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Hajdu-Cheney syndrome est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Scoliosis in skeletal dysplasia associé à (attribut) True Skeletal dysplasia Inferred relationship Some 2
Lordosis in skeletal dysplasia associé à (attribut) False Skeletal dysplasia Inferred relationship Some 2
3-M syndrome est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Tarsal-carpal coalition syndrome est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
dysplasie congénitale d'une hanche est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some
Osteoarthritis of hip due to dysplasia (disorder) Due to True Skeletal dysplasia Inferred relationship Some 1
Rhizomelic dysplasia of Patterson Lowry type (disorder) est un(e) (attribut) True Skeletal dysplasia Inferred relationship Some

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