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
Brachyolmia - Maroteaux type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Fucosidosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia with joint laxity (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Premaxillo-maxillary dysostosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Osteopoikilosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Thanatophoric dysplasia, type 2 (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Spondylodysplasia, San Diego type	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Type IV short rib polydactyly syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Infantile fucosidosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type III (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Leri-Weill dyschondrosteosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Opsismodysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Pachyonychia congenita syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Spondylodysplasia, Torrance type (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Fronto-frontal dysostosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Otospondylomegaepiphyseal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Madelung's deformity	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Larsen syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Spondylodysplasia, Luton type	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Boomerang dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Pseudodiastrophic dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Type III short rib polydactyly syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Acromesomelic dysplasia syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Adult fucosidosis (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Brachyolmia - Hobaek type	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Achondrogenesis, type II (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Ghosal hematodiaphyseal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Vitamin D-dependent rickets, type 2 (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Ectrodactyly-ectodermal dysplasia-clefting syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Sponastrime dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Chondrodysplasia, unspecified	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Ectodermal dysplasia, syndactyly and pili torti	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Dermodental dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Chondrodysplasia NOS	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Maxillo-zygomatic dysostosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Osteodysplasia, unspecified	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Chondroectodermal dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Other lethal retarded ossification syndromes	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
multipele epifysaire dysplasie tarda type 3A	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Ehlers-Danlos-syndroom van vasculair type (aandoening)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Cole-Carpenter dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Achondrogenesis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Osteogenesis imperfecta NOS	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Anonychia with bizarre flexural pigmentation	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Ectodermal dysplasia with hair-tooth defects	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Dysostosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Craniometaphyseal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Brachydactyly syndrome type E	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Dysostosis multiplex group	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Dento-oculocutaneous syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Chondrodysplasia punctata	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Oculodentodigital syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Dyschondroplasia NOS	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Salamon's syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Maxillary dysostosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Rhizomelic chondrodysplasia punctata 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	1
Hypohidrosis-diabetes insipidus syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Hallermann-Streiff syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Osteodysplasia NOS	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Short rib-polydactyly syndrome, non-Majewski type	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Ectodermal dysplasia-ocular malformation syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Skeletal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Fried's tooth and nail syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Patella dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Leri's pleonosteosis syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Greig cephalopolysyndactyly syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Scypho-patellar dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Greither type of ectodermal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Kirman syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Mesomelic dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Schmid type	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Hypochondroplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Mixed sclerosing bone dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Senter syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Ectodermal dysplasia with tooth-nail defects	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Osteodysplastic dysplasia, type I (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Ectodermal dysplasia with tooth-sweating defect	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita group (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Grebe syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Pseudohypoparathyroidism type II	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Familial expansile osteolysis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Sialic storage disease	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Mannosidosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Osteodysplastic dysplasia, type II (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Orofacial-digital syndrome III	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Tricho-oculodermovertebral syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Torg type osteolysis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Microcephalic osteodysplastic dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Schoepf-Schulz-Passage syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
unilaterale dysplastische heup	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Fibrous dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Odontotrichomelic syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Hajdu-Cheney syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Spondylodysplastic group	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Sclerosteosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Curly hair, ankyloblepharon, nail dysplasia syndrome	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)