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
Oculodento-osseous dysplasia - severe type	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Robinson nail dystrophy-deafness syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Ectodermal dysplasia with tooth-nail-sweating defect (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Dento-oculocutaneous syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Berlin syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Mohr syndrome	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	5
Basan syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Johanson-Blizzard syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Odontotrichomelic syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Ectodermal dysplasia with nail defect	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Kirman syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Ectodermal dysplasia with sweating defect	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Roselli-Gulienetti ectodermal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Pachyonychia congenita syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Ectodermal dysplasia with tooth-nail defects	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Flynn-Aird syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Ectodermal dysplasia with tooth-sweating defect	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Laryngo-onychocutaneous syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Anhidrotic ectodermal dysplasia with immune deficiency (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Cranioectodermal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
congenitale ectodermale dysplasie van aangezicht	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Greither type of ectodermal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Ectodermal dysplasia with hair-tooth-nail defects	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Fried's tooth and nail syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Pachyonychia congenita type III of Schafer-Brunauer (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Senter syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Ectodermal dysplasia, syndactyly and pili torti	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Orofacial-digital syndrome IV	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Trichodental syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Dwarfism, alopecia, pseudoanodontia, cutis laxa	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Ectodermal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Marshall syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Moynahan's syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Odonto-onychial dysplasia with alopecia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Olive dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Curry-Hall syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Dermodental dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Odontomicronychial ectodermal dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Triphalangeal thumbs with onychodystrophy	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Ectodermal dysplasia with hair-tooth-nail-sweating defect	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Tricho-dento-osseous syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Odonto-onycho-dermal dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Hidrotic ectodermal dysplasia syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Hypohidrosis with neurolabyrinthitis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Salamon's syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Kohlschutter's syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Oral-facial-digital syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Ectodermal dysplasia with hair-tooth defects	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Pachyonychia congenita type II of Jackson-Lawler (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Hypodontia and nail dysgenesis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	7
Hypohidrotic X-linked ectodermal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Orofacial-digital syndrome III	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Schinzel-Giedion syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Chondroectodermal dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Hypohidrosis-diabetes insipidus syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Ectodermal dysplasia with hair-nail defect	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Ectodermal dysplasia-ocular malformation syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Sandman-Andra syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Oculodentodigital syndrome (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Oculodento-osseous dysplasia - mild type	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Schoepf-Schulz-Passage syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Tricho-onychodental dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
dysplasie van pulmonalisklep	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Ectrodactyly-ectodermal dysplasia-clefting syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Bilateral dysplastic hip	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	4
Hay-Wells syndrome of ectodermal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Arteriohepatic dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital hip dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Renal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Saldino-Mainzer dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Bilateral renal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Bilateral renal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
Congenital ovarian dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Curly hair, ankyloblepharon, nail dysplasia syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Ectodermal dysplasia with hair-nail defect	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Tricho-oculodermovertebral syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
parodontitis gelijktijdig met Ehlers-Danlos-syndroom type 4 (aandoening)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5
parodontitis gelijktijdig met Ehlers-Danlos-syndroom type 4 (aandoening)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Arteriohepatic dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Multiple epiphyseal dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Robinow syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Temporo-auro-mandibular dysostosis	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	4
Cerebrofacial dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
congenitale ectodermale dysplasie van aangezicht	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Olive dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
dysplasie van pulmonalisklep	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Short rib dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Wolcott-Rallison dysplasia	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Oculodento-osseous dysplasia - severe type	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	8
Oculodento-osseous dysplasia - mild type	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	8
multipele epifysaire dysplasie tarda type 3A	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	3
Hepatoportal microvascular dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Brachydactyly syndrome type B (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Brachydactyly syndrome type C (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	2
Hereditary mucoepithelial dysplasia (disorder)	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	1
Mohr syndrome	Associated morphology	False	congenitale dysplasie (afwijkende morfologie)	Inferred relationship	Some	5

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Reference Sets

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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)