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
Acrofrontofacionasal dysostosis type 2	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7
Limb mammary syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	6
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7
Acrofrontofacionasal dysostosis type 2	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	6
Joubert syndrome with orofaciodigital defect (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7
Joubert syndrome with orofaciodigital defect (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	6
Multiple epiphyseal dysplasia type 4 (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Multiple epiphyseal dysplasia type 1 (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Multiple epiphyseal dysplasia type 5 (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Blepharocheilodontic syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Multiple epiphyseal dysplasia Al-Gazali type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Multiple epiphyseal dysplasia Beighton type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Hip dysplasia Beukes type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Karsch Neugebauer syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7
Johnson neuroectodermal syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Oculootoradial syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Oculoosteocutaneous syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Book syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Ballard syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Catel Manzke syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Ballard syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Autosomal recessive popliteal pterygium syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Oculotrichodysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Skeletal dysplasia with intellectual disability syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Sacral dysgenesis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Lumbosacral agenesis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Fuhrmann syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Oro-facial digital syndrome type 10 (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Oro-facial digital syndrome type 5 (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Ossification anomaly with psychomotor developmental delay syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	8
Osteocraniostenosis (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	6
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
syndroom van dyschondrosteose en nefritis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Dysspondyloenchondromatosis (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Familial caudal dysgenesis (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Optic disc dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Frontonasal dysplasia sequence	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Fuhrmann syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Oro-facial digital syndrome type 10 (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7
Oro-facial digital syndrome type 5 (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	6
Parastremmatic dwarfism (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	6
Odonto-tricho-ungual-digito-palmar syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	9
Ackerman syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Endocrine-cerebro-osteodysplasia syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	6
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Hypotrichosis with juvenile macular degeneration syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Ectodermal dysplasia with blindness syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	6
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	6
Kozlowski spondylometaphyseal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Pili torti onychodysplasia syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Pili torti onychodysplasia syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7
Pili torti onychodysplasia syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Polyvalvular heart disease syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Terminal osseous dysplasia and pigmentary defect syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Polyvalvular heart disease syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Thymic, renal, anal, lung dysplasia syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Thoracolaryngopelvic dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Clastothrix	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Stern Lubinsky Durrie syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Clastothrix	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Trichothiodystrophy (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Grant syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Patterson Stevenson Fontaine syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Patterson Stevenson Fontaine syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Schimke immuno-osseous dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Microspherophakia with metaphyseal dysplasia syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
8q13 microdeletion syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	6
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Hypertelorism Teebi type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Microspherophakia with metaphyseal dysplasia syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Craniometadiaphyseal dysplasia wormian bone type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Bowed tibia, radial anomaly, osteopenia, fracture syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
cheiro-spondylo-enchondromatose (aandoening)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Craniolenticulosutural dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
8q13 microdeletion syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Atelosteogenesis type 1 (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Atelosteogenesis type 3 (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Omodysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Autosomal dominant omodysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Autosomal recessive omodysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7

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Reference Sets

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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)