25283002: Congenital dysplasia (morphologic abnormality)

Status: retired, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

42393010 Congenital dysplasia en Synonym Active Case insensitive SNOMED CT core
42394016 Congenital dysplasia, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
755582019 Congenital dysplasia (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital dysplasia	Is a	Congenital anomaly	false	Inferred relationship	Some
Congenital dysplasia	Is a	Dysplasia	false	Inferred relationship	Some
Congenital dysplasia	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital dysplasia	Is a	Developmental abnormality	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Spheno-frontal dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Mandibuloacral dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic rickets	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Vitamin D-dependent rickets type I	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Vitamin D-dependent rickets type II	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Vitamin D-dependent rickets type II with alopecia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Vitamin D-dependent rickets type II without alopecia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
GM1 gangliosidosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Adult GM1 gangliosidosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Beta-D-mannosidosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Congenital ectodermal dysplasia of face	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Juvenile idiopathic generalised osteoporosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Ganglioside sialidase deficiency	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Diffuse hypoplasia of right ventricle	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	2
Hypoplasia of right ventricular inflow tract	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Hypoplasia of right ventricular outflow tract	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	2
Hypoplasia of right ventricular outflow tract and trabecular area	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	2
Defects of the tubular (and flat) bones and/or axial skeleton	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Spondylodysplasia, San Diego type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Spondylodysplasia, Torrance type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Spondylodysplasia, Luton type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Schneckenbecken dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Type III short rib polydactyly syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Type IV short rib polydactyly syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Boomerang dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Atelosteogenesis type 2	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Omodysplasia I	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Omodysplasia II	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Pseudodiastrophic dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Otospondylomegaepiphyseal dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Achondrogenesis, type II	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Spondyloepimetaphyseal disorder	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Autosomal recessive spondyloepimetaphyseal dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Namaqualand hip dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Progressive pseudorheumatoid dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Wolcott-Rallison dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Immuno-osseous dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Opsismodysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Spondylometaphyseal dysplasia - Sutcliffe type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Spondyloenchondrodysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Epiphyseal dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Chondrodysplasia punctata, MT type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Spahr type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Metaphyseal anadysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Brachyrachia (short spine dysplasia)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Brachyolmia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Acromicric dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Saldino-Mainzer dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Cranioectodermal dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Dysplasias with significant membranous bone involvement	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Kyphomelic dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Stuve-Wiedemann dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Multiple dislocations with dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Desbuquois syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia with joint laxity	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 1	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 2	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Dysplasia with decreased bone density	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Osteogenesis imperfecta type IIA	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Osteogenesis imperfecta type IIB	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Osteoporosis with pseudoglioma	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Bruck syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Singleton-Merten syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Geroderma osteodysplastica	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Dysplasia with defective mineralisation	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Dysplasia with increased bone density	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Dysosteosclerosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Osteosclerosis - Stanescu type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Axial osteosclerosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Osteomesopycnosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Osteopathia striata with cranial sclerosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Endosteal hyperostoses	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Worth disease	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Endosteal hyperostoses with cerebellar hypoplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Pachydermoperiostosis - familial	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Craniometaphyseal dysplasia - severe type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Craniometaphyseal dysplasia - mild type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Oculodento-osseous dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Oculodento-osseous dysplasia - severe type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Oculodento-osseous dysplasia - mild type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Disorganised development of cartilaginous and fibrous components of the skeleton	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Dyschondroplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Osteoglophonic dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Fibrous dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Idiopathic osteolyses	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Hereditary acroosteolysis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Carpal-tarsal osteolysis with nephropathy	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Winchester syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Torg type osteolysis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Familial expansile osteolysis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Enchondromatosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Idiopathic hyperphosphatasaemia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Fragilitas ossium congenita	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Spondylodysplastic group	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1
Short rib dysplasia group (with or without polydactyly)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Some	1

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Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
42393010	Congenital dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
42394016	Congenital dysplasia, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
755582019	Congenital dysplasia (morphologic abnormality)	en	Fully specified name	Active	Case insensitive	SNOMED CT core