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105986008: Congenital skeletal dysplasia (disorder)

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

Descriptions:

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

616 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital skeletal dysplasia Is a Disorder of skeletal system true Inferred relationship Existential restriction modifier
Congenital skeletal dysplasia Is a Congenital anomaly of skeletal bone false Inferred relationship Existential restriction modifier
Congenital skeletal dysplasia Occurrence Congenital false Inferred relationship Existential restriction modifier
Congenital skeletal dysplasia Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 1
Congenital skeletal dysplasia Finding site Bone structure false Inferred relationship Existential restriction modifier 1
Congenital skeletal dysplasia Finding site Skeletal system structure true Inferred relationship Existential restriction modifier 1
Congenital skeletal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 1
Congenital skeletal dysplasia Is a Congenital malformation false Inferred relationship Existential restriction modifier
Congenital skeletal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 1
Congenital skeletal dysplasia Finding site Bone structure false Inferred relationship Existential restriction modifier 1
Congenital skeletal dysplasia Occurrence Congenital false Inferred relationship Existential restriction modifier 2
Congenital skeletal dysplasia Finding site Bone structure false Inferred relationship Existential restriction modifier 2
Congenital skeletal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 2
Congenital skeletal dysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital skeletal dysplasia Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Congenital skeletal dysplasia Is a Congenital anomaly of musculoskeletal system true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Holoprosencephaly with caudal dysgenesis syndrome Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Lethal occipital encephalocele, skeletal dysplasia syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Sterile multifocal osteomyelitis with periostitis and pustulosis Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Pyknoachondrogenesis Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Congenital dysplasia of patella Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Familial osteodysplasia Anderson type Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Brachydactyly elbow wrist dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Winchester syndrome Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Osteogenesis imperfecta Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Spondylometaphyseal dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Otopalatodigital syndrome spectrum disorder Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Developmental dislocation of ankle and/or foot Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Developmental dislocation of joint of shoulder region Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Occipital dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Saldino-Mainzer dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Osteoarthritis of left hip joint due to dysplasia Due to True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier 2
Osteoarthritis of right hip joint due to dysplasia Due to True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier 2
Seckel syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Cutis laxa, x-linked Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Marshall-Smith syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Coxoauricular syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Short-limb skeletal dysplasia with severe combined immunodeficiency Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Short rib dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Stickler syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Lethal Kniest-like syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Kniest dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Kniest-Stickler dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Thin ribs, tubular bones, dysmorphism syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Proteus syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Congenital dysplasia of bone caused by drug Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Osteosclerosis - Stanescu type Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Congenital glenoid dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Craniofrontonasal dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Kosaki overgrowth syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
NIMA related kinase 9 lethal skeletal dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Lordosis deformity of spine due to congenital skeletal dysplasia Due to True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier 2
Hallermann Streiff like syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Osteofibrous dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Osteosclerotic metaphyseal dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Madelung's deformity Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier

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