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
Renal dysplasia with limb defect syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Ulna fibula ray defect and brachydactyly syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Congenital hypoplasia of ulna and intellectual disability syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Ulna fibula ray defect and brachydactyly syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Trichodysplasia with amelogenesis imperfecta syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Taurodontia with absent teeth and sparse hair syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Primary renal dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Secondary renal dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Bilateral secondary renal dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Bilateral secondary renal dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Acrofrontofacionasal dysostosis (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Acrofrontofacionasal dysostosis (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Acrofrontofacionasal dysostosis (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Acrocapitofemoral dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Acrocraniofacial dysostosis (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Acropectorovertebral dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Campomelia Cumming type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Acrocraniofacial dysostosis (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Acrofacial dysostosis Catania type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Acrofacial dysostosis Catania type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Acrofacial dysostosis Kennedy Teebi type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Acrofacial dysostosis Kennedy Teebi type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Acrofacial dysostosis Palagonia type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Acrofacial dysostosis Palagonia type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Acrofacial dysostosis Rodriguez type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Bone dysplasia Azouz type	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Brachydactyly and arterial hypertension syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Camptodactyly syndrome Guadalajara type 2 (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Cerebro-facio-thoracic dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Cerebro-facio-thoracic dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Acrofacial dysostosis Rodriguez type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Ankylosing vertebral hyperostosis with tylosis syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	6
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7
Cerebro-facio-thoracic dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Coxopodopatellar syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Cranioosteoarthropathy (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Craniofacial conodysplasia syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Czech dysplasia metatarsal type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Chondrodysplasia with disorder of sex development syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
syndroom van Ehlers-Danlos met periventriculaire heterotopie	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	6
Ehlers-Danlos syndrome cardiac valvular type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Ehlers-Danlos syndrome cardiac valvular type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	8
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	9
Ehlers-Danlos syndrome musculocontractural type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Ehlers-Danlos syndrome musculocontractural type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Ehlers-Danlos syndrome vascular-like type	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Eiken syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Filippi syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7
Angel-shaped phalangoepiphyseal dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	6
Ehlers-Danlos syndrome musculocontractural type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7
Ehlers-Danlos syndrome vascular-like type	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Frank-Ter Haar syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Ankylosing vertebral hyperostosis with tylosis syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Craniofacial conodysplasia syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
syndroom van Ehlers-Danlos met periventriculaire heterotopie	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	8
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Choroidal atrophy and alopecia syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	6
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7
Holt-Oram syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Ehlers-Danlos syndrome progeroid type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Ehlers-Danlos syndrome progeroid type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Hall Riggs syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Heart defect and limb shortening syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Heart-hand syndrome type 3 (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Postaxial polydactyly and intellectual disability syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Dacryocystitis and osteopoikilosis syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Lymphedema hypoparathyroidism syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7
Dermo-odonto dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Diaphanospondylodysostosis (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Caudal regression syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Heart defect and limb shortening syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Heart-hand syndrome Slovenian type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Aplasia of fibula and ectrodactyly syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Heart-hand syndrome type 2 (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Deafness, enamel hypoplasia, nail defect syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	10
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	9
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Dermatoosteolysis Kirghizian type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Hidrotic ectodermal dysplasia Halal type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	6
Hip dysplasia Beukes type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Hypomandibular faciocranial dysostosis (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Scalp, ear, nipple syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7
Robinow-like syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Coloboma of macula with brachydactyly type B syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Dermatoosteolysis Kirghizian type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Acrofrontofacionasal dysostosis type 2	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Acrofrontofacionasal dysostosis type 2	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7

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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)