25283002: Congenital dysplasia (morphologic abnormality)

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

Descriptions:

Id Description Lang Type Status Case? Module

42393010 Congenital dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

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

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital acetabular dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	2
Dysplasia of eye	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Unilateral congenital dysplasia of lung with vascular anomalies	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Congenital hip dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Regional odontodysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Shell teeth	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Baller-Gerold syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Congenital renal dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Geographic retinal dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Unilateral dysplastic hip	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	2
Bilateral dysplastic hip	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	2
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Congenital skeletal dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Renal dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Bilateral renal dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Unilateral renal dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Hypochondroplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Mesomelic dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Dysplasia epiphysealis hemimelica	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Metachondromatosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Hypochondrogenesis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Osteopsathyrosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta type II	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta type IV	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Craniodiaphyseal dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Otomandibular dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	2
Intermandibular dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Temporo-auro-mandibular dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Zygo-auro-mandibular dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Temporo-aural dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Maxillary dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	2
Maxillo-zygomatic dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Naso-maxillary dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Intermaxillo-palatine dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Premaxillo-maxillary dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Internasal dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Frontal dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Fronto-frontal dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Fronto-naso-ethmoidal dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Fronto-malar faciosynostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Sphenoidal dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Spheno-frontal dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Mandibuloacral dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Autosomal dominant hypophosphatemic rickets	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Autosomal dominant hypophosphatemic bone disease	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Vitamin D-dependent rickets type I	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Vitamin D-dependent rickets type II	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Vitamin D-dependent rickets type II with alopecia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Vitamin D-dependent rickets type II without alopecia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
GM1 gangliosidosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Infantile GM1 gangliosidosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Adult GM1 gangliosidosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Beta-D-mannosidosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Congenital ectodermal dysplasia of face	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Juvenile idiopathic generalized osteoporosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Ganglioside sialidase deficiency	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Diffuse hypoplasia of right ventricle	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	2
Hypoplasia of right ventricular inflow tract	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Hypoplasia of right ventricular outflow tract	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	2
Hypoplasia of right ventricular outflow tract and trabecular area	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	2
Defects of the tubular (and flat) bones and/or axial skeleton	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Spondylodysplasia, San Diego type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Spondylodysplasia, Torrance type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Spondylodysplasia, Luton type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Schneckenbecken dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Type III short rib polydactyly syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Type IV short rib polydactyly syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Boomerang dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Atelosteogenesis type 2	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Omodysplasia I	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Omodysplasia II	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Pseudodiastrophic dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Otospondylomegaepiphyseal dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Achondrogenesis, type II	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal disorder	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Autosomal recessive spondyloepimetaphyseal dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Namaqualand hip dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Progressive pseudorheumatoid dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Wolcott-Rallison dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Immuno-osseous dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Opsismodysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Spondylometaphyseal dysplasia - Sutcliffe type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Spondyloenchondrodysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Epiphyseal dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Chondrodysplasia punctata, X-linked recessive type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Chondrodysplasia punctata, tibia-metacarpal type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Metaphyseal chondrodysplasia, Spahr type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Metaphyseal anadysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Brachyrachia (short spine dysplasia)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Brachyolmia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Acromicric dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Trichorhinophalangeal dysplasia type I	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Saldino-Mainzer dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Cranioectodermal dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Dysplasias with significant membranous bone involvement	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Kyphomelic dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Stuve-Wiedemann dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Multiple dislocations with dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Desbuquois syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal dysplasia with joint laxity	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier	1

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Id	Description	Lang	Type	Status	Case?	Module
42393010	Congenital dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
755582019	Congenital dysplasia (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module