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
Curly hair, ankyloblepharon, nail dysplasia syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Sandman-Andra syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
chondrodysplasie met kenmerkend fenotype (aandoening)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Short rib dysplasia group (with or without polydactyly)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Oculodento-osseous dysplasia - severe type	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Temporo-aural dysostosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Regional odontodysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia tarda	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital hip dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Osteogenesis imperfecta, dominant perinatal lethal	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Craniometadiaphyseal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Achondrogenesis, type IB	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Intermaxillo-palatine dysostosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
pseudohypoparathyreoïdie en pseudopseudohypoparathyreoïdie type I (aandoening)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Vitamin D-dependent rickets, type 1	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Maffucci syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Flynn-Aird syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Bent bone dysplasia group	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Bilateral dysplastic hip	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Juvenile idiopathic generalized osteoporosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Dysostosis of bone of skull	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Hypermobile Ehlers-Danlos syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
congenitale ectodermale dysplasie van aangezicht	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Pachydermoperiostosis - familial	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Basan syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Disorganized development of cartilaginous and fibrous components of the skeleton	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Dermatofibrosis lenticularis disseminata	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Hypochondrogenesis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Trichodental syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Oculodento-osseous dysplasia - mild type	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Hypoplasia of right ventricular outflow tract and trabecular area	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Idiopathic osteolyses	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
[EDTA] Congenital renal dysplasia with or without urinary tract malformation associated with renal failure	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Ectodermal dysplasia with hair-nail defect	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Idiopathic multicentric osteolysis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Mandibuloacral dysostosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Metaphyseal chondrodysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Hypoplasia of right ventricular inflow tract (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Other osteodysplasia NOS	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Craniometaphyseal dysplasia - severe type	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Ehlers-Danlos syndrome, dysfibronectinaemic	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Diffuse hypoplasia of right ventricle	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Endosteal hyperostoses	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Pseudo-Hurler polydystrophy	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Dyschondroplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Hypohidrosis with neurolabyrinthitis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Oculodento-osseous dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Tricho-dento-osseous syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Osteomesopycnosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Temporo-auro-mandibular dysostosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Naso-maxillary dysostosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Ectodermal dysplasia with hair-tooth-nail defects	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Worth disease	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Geleophysic dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Roselli-Gulienetti ectodermal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Dysplasia with defective mineralization	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Osteogenesis imperfecta with normal sclerae, dominant form	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Osteogenesis imperfecta	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked dominant type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
X-linked Ehlers-Danlos syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Dysosteosclerosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Mannosidosis, type II (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Frontometaphyseal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Dysplasia with increased bone density (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Beals auriculo-osteodysplasia syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Ectodermal dysplasia with hair-tooth-nail-sweating defect	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Ehlers-Danlos-syndroom type 2	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Dappled diaphyseal dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Osteogenesis imperfecta type IIA	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Vitamin D-dependent rickets type II without alopecia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Hay-Wells syndrome of ectodermal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
[X]Other osteochondrodysplasia with defects of growth of tubular bones and spine	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Carpotarsal osteochondromatosis (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Spheno-frontal dysostosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Axial osteosclerosis (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Hypoplasia of right ventricular outflow tract	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Tricho-onychodental dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Vascular Ehlers-Danlos syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Rolland-Debuqois syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Hyperphosphatasemia tarda	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic bone disease	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Astley-Kendall dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Nievergelt's syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Pseudohypoparathyroidism type I A	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital exostosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Osteosclerosis - Stanescu type	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Multiple synostosis syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Mohr syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Hypohidrotic X-linked ectodermal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Geographic retinal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Cherubism with gingival fibromatosis (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Cutaneous asthenia in dogs AND/OR cats	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Osteogenesis imperfecta type IIB	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Osteoporosis with pseudoglioma	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Greenberg dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1

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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)