25283002: congenitale dysplasie (afwijkende morfologie)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
congenitale dysplasie (afwijkende morfologie)	Is a	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
congenitale dysplasie (afwijkende morfologie)	Is a	Dysplasia	false	Inferred relationship	Some
congenitale dysplasie (afwijkende morfologie)	Is a	Congenital malformation	false	Inferred relationship	Some
congenitale dysplasie (afwijkende morfologie)	Is a	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Epiphyseal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Dysplasia with increased bone density (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Acromesomelic dysplasia syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Madelung's deformity	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Chondrodysplasia punctata, X-linked recessive type	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Dyggve-Melchior-Clausen syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Osteodysplastic dysplasia, type II (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Familial x-linked hypophosphatemic vitamin D refractory rickets	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Torg type osteolysis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Adult GM1 gangliosidosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Chondrodysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Enchondromatosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Spondyloenchondromatosis with basal ganglia calcification (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Lethal retarded ossification syndromes	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Grebe syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Frontometaphyseal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
spondylo-epimetafysaire dysplasie met gewrichtslaxiteit	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Osteopoikilosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Aspartylglucosaminuria	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Thanatophoric dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Thanatophoric dysplasia, type 2 (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Rolland-Debuqois syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Hyperphosphatasemia tarda	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Spondylodysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Bruck syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Naso-maxillary dysostosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Sclerosteosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Osteoporosis with pseudoglioma	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Robinow syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Pseudohypoparathyroidism type I B	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Achondrogenesis, type IB	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Multiple synostosis syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Juvenile GM1 gangliosidosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Microcephalic osteodysplastic dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Osteomesopycnosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Acromesomelic dysplasia Hunter-Thompson type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Cranioectodermal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Dysplasia with decreased bone density	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, Schmid type	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Kniest-Stickler dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Osteochondrodysplasia with osteopetrosis (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia congenita group (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Osteodysplastic dysplasia, type I (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Greig cephalopolysyndactyly syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Osteogenesis imperfecta, perinatal lethal	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Endosteal hyperostoses	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
I-cell disease	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Multiple dislocations with dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Acromicric dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Lethal chondrodysplasia with fragmented bone (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Maxillary dysostosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
metafysaire chondrodysplasie type McKusick met geassocieerde immunodeficiëntie	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Temporo-aural dysostosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Skeletal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Osteogenesis imperfecta type IIB	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Disorganized development of cartilaginous and fibrous components of the skeleton	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Dysplasia with defective mineralization	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Idiopathic osteolyses	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Osteosclerosis - Stanescu type	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Intermandibular dysostosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Axial osteosclerosis (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Autosomal dominant hypophosphatemic rickets	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Achondrogenesis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, McKusick type	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Spondyloepimetaphyseal disorder	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Multiple epiphyseal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Pseudohypoparathyroidism type I A	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Greenberg dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Kyphomelic dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Mesomelic dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Cole-Carpenter dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Hyperphosphatasemia with bone disease	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Ghosal hematodiaphyseal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Spondyloenchondromatosis (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Winchester syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
GM1 gangliosidosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Maffucci syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
X-gebonden dominante chondrodysplasia punctata type 2 (aandoening)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Autosomal dominant hypophosphataemic bone disease	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Multiple congenital exostosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Infantile fucosidosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Lethal Kniest-like syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Salla disease	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Astley-Kendall dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Juvenile fucosidosis (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Pseudo-Hurler polydystrophy	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Oculodento-osseous dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Melnick-Needles syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Progressive pseudorheumatoid dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Wolcott-Rallison dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Type IV short rib polydactyly syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Fucosidosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Mannosidosis, type I	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Frontal dysostosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Beta-D-mannosidosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Osteogenesis imperfecta type III (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Metatropic dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Premaxillo-maxillary dysostosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Langer mesomelic dysplasia syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Osteogenesis imperfecta, dominant perinatal lethal	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Osteoplastic dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2

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Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)

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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
42394016	Congenital dysplasia, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character 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
752831000146111	congenitale dysplasie (afwijkende morfologie)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
752841000146115	congenitale dysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)