FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

105986008: Congenital skeletal dysplasia (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

616 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital skeletal dysplasia Pathological process Pathological developmental process true Inferred relationship Some 1
Congenital skeletal dysplasia Is a Congenital anomaly of musculoskeletal system true Inferred relationship Some
Congenital skeletal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 1
Congenital skeletal dysplasia Is a Disorder of skeletal system true Inferred relationship Some
Congenital skeletal dysplasia Is a Congenital anomaly of skeletal bone false Inferred relationship Some
Congenital skeletal dysplasia Is a Congenital anomaly false Inferred relationship Some
Congenital skeletal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 1
Congenital skeletal dysplasia Finding site Bone structure false Inferred relationship Some 1
Congenital skeletal dysplasia Occurrence Congenital false Inferred relationship Some
Congenital skeletal dysplasia Associated morphology Dysplasia true Inferred relationship Some 1
Congenital skeletal dysplasia Finding site Bone structure false Inferred relationship Some 1
Congenital skeletal dysplasia Finding site Skeletal system structure true Inferred relationship Some 1
Congenital skeletal dysplasia Occurrence Congenital false Inferred relationship Some 2
Congenital skeletal dysplasia Finding site Bone structure false Inferred relationship Some 2
Congenital skeletal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 2
Congenital skeletal dysplasia Occurrence Congenital true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Ehlers-Danlos syndrome with periventricular heterotopia Is a False Congenital skeletal dysplasia Inferred relationship Some
Ehlers-Danlos syndrome cardiac valvular type Is a False Congenital skeletal dysplasia Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a False Congenital skeletal dysplasia Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type Is a False Congenital skeletal dysplasia Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic type Is a False Congenital skeletal dysplasia Inferred relationship Some
Ehlers-Danlos syndrome vascular-like type Is a False Congenital skeletal dysplasia Inferred relationship Some
Brittle cornea syndrome Is a False Congenital skeletal dysplasia Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome Is a False Congenital skeletal dysplasia Inferred relationship Some
Lethal occipital encephalocele, skeletal dysplasia syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis Is a True Congenital skeletal dysplasia Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Pyknoachondrogenesis Is a True Congenital skeletal dysplasia Inferred relationship Some
Congenital dysplasia of patella Is a True Congenital skeletal dysplasia Inferred relationship Some
Familial osteodysplasia Anderson type Is a True Congenital skeletal dysplasia Inferred relationship Some
Brachydactyly elbow wrist dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Winchester syndrome Is a False Congenital skeletal dysplasia Inferred relationship Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Is a True Congenital skeletal dysplasia Inferred relationship Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Osteogenesis imperfecta Is a True Congenital skeletal dysplasia Inferred relationship Some
Spondylometaphyseal dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Otopalatodigital syndrome spectrum disorder Is a True Congenital skeletal dysplasia Inferred relationship Some
Developmental dislocation of ankle and/or foot Is a True Congenital skeletal dysplasia Inferred relationship Some
Developmental dislocation of shoulder Is a True Congenital skeletal dysplasia Inferred relationship Some
Occipital dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Saldino-Mainzer dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Osteoarthritis of left hip joint due to dysplasia Due to True Congenital skeletal dysplasia Inferred relationship Some 2
Osteoarthritis of right hip joint due to dysplasia Due to True Congenital skeletal dysplasia Inferred relationship Some 2
Seckel syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Cutis laxa, x-linked Is a True Congenital skeletal dysplasia Inferred relationship Some
Marshall-Smith syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Coxoauricular syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Short-limb skeletal dysplasia with severe combined immunodeficiency Is a True Congenital skeletal dysplasia Inferred relationship Some
Short rib dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Stickler syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Lethal Kniest-like syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Kniest dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Kniest-Stickler dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Thin ribs, tubular bones, dysmorphism syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Proteus syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Congenital dysplasia of bone caused by drug Is a True Congenital skeletal dysplasia Inferred relationship Some
Osteosclerosis - Stanescu type Is a True Congenital skeletal dysplasia Inferred relationship Some
Congenital glenoid dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Craniofrontonasal dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Kosaki overgrowth syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
NEK9-related lethal skeletal dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Lordosis deformity of spine due to congenital skeletal dysplasia Due to True Congenital skeletal dysplasia Inferred relationship Some 2
Hallermann Streiff like syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Osteofibrous dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
DONSON-related microcephaly, short stature, limb abnormalities spectrum Is a True Congenital skeletal dysplasia Inferred relationship Some
Osteosclerotic metaphyseal dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Madelung's deformity Is a True Congenital skeletal dysplasia Inferred relationship Some
Developmental hip dysplasia Is a False Congenital skeletal dysplasia Inferred relationship Some
Chondrodysplasia punctata congenita Is a False Congenital skeletal dysplasia Inferred relationship Some
Nail-patella syndrome Is a False Congenital skeletal dysplasia Inferred relationship Some
Metatropic dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Ehlers-Danlos syndrome Is a False Congenital skeletal dysplasia Inferred relationship Some
Achondrogenesis Is a True Congenital skeletal dysplasia Inferred relationship Some
Bone island Is a False Congenital skeletal dysplasia Inferred relationship Some
Ectopic bone tissue, congenital Is a False Congenital skeletal dysplasia Inferred relationship Some
Metaphyseal chondrodysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Weill-Marchesani syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Greig cephalopolysyndactyly syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Osteoplastic dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Diaphyseal dysplasia with anaemia Is a False Congenital skeletal dysplasia Inferred relationship Some
Spondyloepiphyseal dysplasia congenita Is a False Congenital skeletal dysplasia Inferred relationship Some
Leri's pleonosteosis syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Atelosteogenesis Is a False Congenital skeletal dysplasia Inferred relationship Some
Ehlers-Danlos syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Osteochondrodysplasia with osteopetrosis Is a True Congenital skeletal dysplasia Inferred relationship Some
Beals auriculo-osteodysplasia syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Hypochondroplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Mesomelic dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Multiple synostosis syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Antley-Bixler syndrome Is a False Congenital skeletal dysplasia Inferred relationship Some
Accessory ossification centre Is a False Congenital skeletal dysplasia Inferred relationship Some
Brachydactyly syndrome type E Is a False Congenital skeletal dysplasia Inferred relationship Some
Diaphyseal dysplasia Is a False Congenital skeletal dysplasia Inferred relationship Some
Vitamin D-dependent rickets, type 1 Is a False Congenital skeletal dysplasia Inferred relationship Some
Vitamin D-dependent rickets, type 2 Is a False Congenital skeletal dysplasia Inferred relationship Some
Progressive myositis ossificans Is a False Congenital skeletal dysplasia Inferred relationship Some
Miller syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Baller-Gerold syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Kyphosis in skeletal dysplasia Associated with True Congenital skeletal dysplasia Inferred relationship Some 2
Diaphyseal dysplasia with anaemia Is a False Congenital skeletal dysplasia Inferred relationship Some
Diaphyseal dysplasia Is a False Congenital skeletal dysplasia Inferred relationship Some
Chondrodysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Osteodysplasia Is a False Congenital skeletal dysplasia Inferred relationship Some
Dysostosis Is a True Congenital skeletal dysplasia Inferred relationship Some
Symphalangism-brachydactyly syndrome Is a False Congenital skeletal dysplasia Inferred relationship Some
Chondroectodermal dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Cherubism with gingival fibromatosis Is a True Congenital skeletal dysplasia Inferred relationship Some
Hajdu-Cheney syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Scoliosis in skeletal dysplasia Associated with True Congenital skeletal dysplasia Inferred relationship Some 2
Lordosis in skeletal dysplasia Associated with False Congenital skeletal dysplasia Inferred relationship Some 2
3-M syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Tarsal-carpal coalition syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some

Page 1 of 2 End

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start