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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 Reference Sets
170405012 Skeletal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
576961012 Congenital skeletal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
2764211017 Congenital skeletal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3758347014 Osteochondrodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3758348016 Osteodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)

571 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Skeletal dysplasia Is a Disorder of skeletal system true Inferred relationship Some
Skeletal dysplasia Is a Congenital anomaly of skeletal bone false Inferred relationship Some
Skeletal dysplasia Occurrence Congenital false Inferred relationship Some
Skeletal dysplasia Associated morphology Dysplasia true Inferred relationship Some 1
Skeletal dysplasia Finding site Bone structure false Inferred relationship Some 1
Skeletal dysplasia Finding site Skeletal system structure true Inferred relationship Some 1
Skeletal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 1
Skeletal dysplasia Is a Congenital malformation false Inferred relationship Some
Skeletal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 1
Skeletal dysplasia Finding site Bone structure false Inferred relationship Some 1
Skeletal dysplasia Occurrence Congenital false Inferred relationship Some 2
Skeletal dysplasia Finding site Bone structure false Inferred relationship Some 2
Skeletal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 2
Skeletal dysplasia Occurrence Congenital true Inferred relationship Some 1
Skeletal dysplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Skeletal dysplasia Is a Congenital anomaly of musculoskeletal system true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Hypochondroplasia (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Mesomelic dysplasia Is a True Skeletal dysplasia Inferred relationship Some
Dysostosis Is a True Skeletal dysplasia Inferred relationship Some
Defects of the tubular (and flat) bones and/or axial skeleton Is a True Skeletal dysplasia Inferred relationship Some
Epiphyseal dysplasia Is a True Skeletal dysplasia Inferred relationship Some
Brachyrachia (short spine dysplasia) Is a False Skeletal dysplasia Inferred relationship Some
Dysplasias with significant membranous bone involvement Is a True Skeletal dysplasia Inferred relationship Some
Multiple dislocations with dysplasia (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Osteodysplastic primordial dwarfism Is a True Skeletal dysplasia Inferred relationship Some
Dysplasia with decreased bone density Is a True Skeletal dysplasia Inferred relationship Some
Dysplasia with defective mineralization Is a True Skeletal dysplasia Inferred relationship Some
Dysplasia with increased bone density (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Disorganized development of cartilaginous and fibrous components of the skeleton Is a True Skeletal dysplasia Inferred relationship Some
Idiopathic osteolyses Is a False Skeletal dysplasia Inferred relationship Some
Spondylodysplastic group Is a True Skeletal dysplasia Inferred relationship Some
Short rib dysplasia group (with or without polydactyly) Is a False Skeletal dysplasia Inferred relationship Some
Kniest-Stickler dysplasia group Is a False Skeletal dysplasia Inferred relationship Some
Spondyloepiphyseal dysplasia congenita group (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Chondrodysplasia punctata Is a True Skeletal dysplasia Inferred relationship Some
Bent bone dysplasia group Is a True Skeletal dysplasia Inferred relationship Some
Dysostosis multiplex group Is a True Skeletal dysplasia Inferred relationship Some
Acromesomelic dysplasia syndrome Is a True Skeletal dysplasia Inferred relationship Some
Chondrodysplasia punctata congenita Is a False Skeletal dysplasia Inferred relationship Some
Nail-patella syndrome Is a False Skeletal dysplasia Inferred relationship Some
Metatropic dysplasia Is a True Skeletal dysplasia Inferred relationship Some
Ehlers-Danlos syndrome Is a False Skeletal dysplasia Inferred relationship Some
Achondrogenesis Is a True Skeletal dysplasia Inferred relationship Some
Bone island Is a False Skeletal dysplasia Inferred relationship Some
Ectopic bone tissue, congenital Is a False Skeletal dysplasia Inferred relationship Some
Metaphyseal chondrodysplasia Is a True Skeletal dysplasia Inferred relationship Some
Weill-Marchesani syndrome Is a True Skeletal dysplasia Inferred relationship Some
Greig cephalopolysyndactyly syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Spondyloepiphyseal dysplasia congenita Is a False Skeletal dysplasia Inferred relationship Some
Leri's pleonosteosis syndrome Is a True Skeletal dysplasia Inferred relationship Some
Atelosteogenesis Is a False Skeletal dysplasia Inferred relationship Some
Osteochondrodysplasia with osteopetrosis (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Beals auriculo-osteodysplasia syndrome Is a True Skeletal dysplasia Inferred relationship Some
Multiple synostosis syndrome Is a True Skeletal dysplasia Inferred relationship Some
Antley-Bixler syndrome Is a False Skeletal dysplasia Inferred relationship Some
Accessory ossification center Is a False Skeletal dysplasia Inferred relationship Some
Brachydactyly syndrome type E Is a False Skeletal dysplasia Inferred relationship Some
Miller syndrome Is a True Skeletal dysplasia Inferred relationship Some
Baller-Gerold syndrome Is a True Skeletal dysplasia Inferred relationship Some
Chondrodysplasia (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Osteodysplasia Is a False Skeletal dysplasia Inferred relationship Some
Symphalangism-brachydactyly syndrome Is a False Skeletal dysplasia Inferred relationship Some
Congenital hip dysplasia Is a False Skeletal dysplasia Inferred relationship Some
Osteoplastic dysplasia (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Diaphyseal dysplasia with anemia (disorder) Is a False Skeletal dysplasia Inferred relationship Some
Ehlers-Danlos syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Diaphyseal dysplasia Is a False Skeletal dysplasia Inferred relationship Some
Vitamin D-dependent rickets, type 1 Is a False Skeletal dysplasia Inferred relationship Some
Vitamin D-dependent rickets, type 2 (disorder) Is a False Skeletal dysplasia Inferred relationship Some
Progressive myositis ossificans Is a False Skeletal dysplasia Inferred relationship Some
Kyphosis in skeletal dysplasia (disorder) Associated with True Skeletal dysplasia Inferred relationship Some 2
Diaphyseal dysplasia with anemia (disorder) Is a False Skeletal dysplasia Inferred relationship Some
Diaphyseal dysplasia Is a True Skeletal dysplasia Inferred relationship Some
Chondroectodermal dysplasia (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Cherubism with gingival fibromatosis (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Hajdu-Cheney syndrome Is a True Skeletal dysplasia Inferred relationship Some
Scoliosis in skeletal dysplasia Associated with True Skeletal dysplasia Inferred relationship Some 2
Lordosis in skeletal dysplasia Associated with True Skeletal dysplasia Inferred relationship Some 2
3-M syndrome Is a True Skeletal dysplasia Inferred relationship Some
Tarsal-carpal coalition syndrome Is a True Skeletal dysplasia Inferred relationship Some
Congenital hip dysplasia Is a 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) Is a True Skeletal dysplasia Inferred relationship Some
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Heide syndrome Is a True Skeletal dysplasia Inferred relationship Some
Defects of tubular bones and spine (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Craniofacial conodysplasia syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Frank-Ter Haar syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Angel-shaped phalangoepiphyseal dysplasia (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Caudal regression syndrome Is a False Skeletal dysplasia Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Ballard syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Osteocraniostenosis (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Is a False Skeletal dysplasia Inferred relationship Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Craniolenticulosutural dysplasia (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Omodysplasia (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Skeletal dysplasia brachydactyly syndrome Is a True Skeletal dysplasia Inferred relationship Some
Spondyloperipheral dysplasia (disorder) Is a True Skeletal dysplasia Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a True Skeletal dysplasia Inferred relationship Some
Parietal foramina with clavicular hypoplasia Is a True Skeletal dysplasia Inferred relationship Some
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Is a False Skeletal dysplasia Inferred relationship Some
Ehlers-Danlos syndrome cardiac valvular type (disorder) Is a False Skeletal dysplasia Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a False Skeletal dysplasia Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type (disorder) Is a False Skeletal dysplasia Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic type (disorder) Is a False Skeletal dysplasia Inferred relationship Some
syndrome d'Ehlers-Danlos type vasculaire-like Is a False Skeletal dysplasia Inferred relationship Some
Brittle cornea syndrome (disorder) Is a False Skeletal dysplasia Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder) Is a False Skeletal dysplasia Inferred relationship Some

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This concept is not in any reference sets

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