25283002: Congenital dysplasia (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

42393010 Congenital dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

755582019 Congenital dysplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

8221000052116 kongenital dysplasi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
kongenital dysplasi	Is a	kongenital anomali	false	Inferred relationship	Some
kongenital dysplasi	Is a	Dysplasia	false	Inferred relationship	Some
kongenital dysplasi	Is a	medfödd missbildning	false	Inferred relationship	Some
kongenital dysplasi	Is a	utvecklingsabnormitet	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital acetabular dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Dysplasia of eye (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
medfödd ensidig dysplasi av lunga med vaskulära anomalier	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Congenital hip dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Regional odontodysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Shell teeth	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Baller-Gerold syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Congenital renal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Geographic retinal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
unilateral höftdysplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Bilateral dysplastic hip	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrom av okulär typ utan hydroxilysinbrist	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Skeletal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Renal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Bilateral renal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
unilateral njurdysplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hypochondroplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Mesomelic dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dysplasia epiphysealis hemimelica (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Metachondromatosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hypochondrogenesis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteopsathyrosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta with normal sclerae, dominant form	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Craniodiaphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Otomandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Intermandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Temporo-auro-mandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
zygo-auro-mandibulär dysostos	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Temporo-aural dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Maxillary dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Maxillo-zygomatic dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Naso-maxillary dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
intermaxillopalatinal dysostos	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
premaxillomaxillär dysostos	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Internasal dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Frontal dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Fronto-frontal dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Fronto-naso-ethmoidal dysostosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Fronto-malar faciosynostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Sphenoidal dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spheno-frontal dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Mandibuloacral dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Autosomal dominant hypophosphatemic rickets	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Vitamin D-dependent rickets type I	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Vitamin D-dependent rickets type II	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Vitamin D-dependent rickets type II with alopecia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Vitamin D-dependent rickets type II without alopecia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
GM1 gangliosidosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Adult GM1 gangliosidosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Beta-D-mannosidosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
kongenital ektodermal dysplasi av ansikte	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Juvenile idiopathic generalized osteoporosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
mukolipidos 4	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Diffuse hypoplasia of right ventricle	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Hypoplasia of right ventricular inflow tract (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hypoplasia of right ventricular outflow tract	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Hypoplasia of right ventricular outflow tract and trabecular area	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Defects of the tubular (and flat) bones and/or axial skeleton	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondylodysplasia, San Diego type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondylodysplasia, Torrance type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondylodysplasia, Luton type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Schneckenbecken dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Type III short rib polydactyly syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Type IV short rib polydactyly syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Boomerang dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Atelosteogenesis type 2	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
omodysplasi 1	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
omodysplasi 2	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Pseudodiastrophic dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Otospondylomegaepiphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Achondrogenesis, type II	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondyloepimetaphyseal disorder	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
autosomal recessiv spondyloepimetafyseal dysplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Namaqualand hip dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Progressive pseudorheumatoid dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Wolcott-Rallison dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Immuno-osseous dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Opsismodysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondylometaphyseal dysplasia - Sutcliffe type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondyloenchondrodysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Epiphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked recessive type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Chondrodysplasia punctata, MT type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Spahr type	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Metaphyseal anadysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
brakyraki (kort rygg-dysplasi)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Brachyolmia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Acromicric dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Saldino-Mainzer dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Cranioectodermal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dysplasias with significant membranous bone involvement	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Kyphomelic dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Stuve-Wiedemann dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Multiple dislocations with dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Desbuquois syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
spondyloepimetafyseal dysplasi med slapphet i led	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
42393010	Congenital dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
755582019	Congenital dysplasia (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
8221000052116	kongenital dysplasi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)