25283002: Congenital dysplasia (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

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

755582019 Congenital dysplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

8221000052116 kongenital dysplasi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
kongenital dysplasi	Is a	kongenital anomali	false	Inferred relationship	Some
kongenital dysplasi	Is a	Dysplasia	false	Inferred relationship	Some
kongenital dysplasi	Is a	medfödd missbildning	false	Inferred relationship	Some
kongenital dysplasi	Is a	utvecklingsabnormitet	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Multiple congenital exostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondylodysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Short rib dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
atelosteogenes eller diastrofisk dysplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Kniest-Stickler dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dysostosis multiplex	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Furst-Ostrums syndrom	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
dysplasi karakteriserad av böjning av skelettben	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
pseudokondroplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Congenital exostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
symfalangi-brakydaktylisyndrom	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dysplasia of kidney NOS	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Chondrodysplasia, unspecified	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dyschondroplasia NOS	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Other lethal retarded ossification syndromes	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Chondrodysplasia NOS	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteodysplasia, unspecified	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta NOS	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Multiple epiphyseal dysplasia NOS	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Other osteodysplasia NOS	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
[X]Other osteochondrodysplasia with defects of growth of tubular bones and spine	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
[X]Other specified osteochondrodysplasias	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
[X]Osteochondrodysplasia with defect growth of tubular bone and spine unspecified	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Chondrodystophy NEC	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Other specified osteodysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteodysplasia NOS	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
[EDTA] Congenital renal dysplasia with or without urinary tract malformation associated with renal failure	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta type I (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta type III (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Thanatophoric dysplasia, type 1 (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Thanatophoric dysplasia, type 2 (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia with joint laxity (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Sponastrime dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Acroscyphodysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Sedaghatian type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
brakyolmi, Hobaek-typ	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Brachyolmia - Maroteaux type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type III (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Acromesomelic dysplasia Hunter-Thompson type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Brachydactyly syndrome type B (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Brachydactyly syndrome type C (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Precocious osteodysplasty (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Yunis-Varon dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteoplastic dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteodysplastic dysplasia, type I (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Osteodysplastic dysplasia, type II (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
mikrocefal osteodysplastisk dysplasi	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Cole-Carpenter dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Mixed sclerosing bone dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ghosal hematodiaphyseal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Diaphyseal medullary stenosis with bone malignancy (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Lethal chondrodysplasia with fragmented bone (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Greenberg dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dappled diaphyseal dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Astley-Kendall dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Genochondromatosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondyloenchondromatosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Spondyloenchondromatosis with basal ganglia calcification (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Cherubism with gingival fibromatosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Patella dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Scypho-patellar dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
hornhinnefragilitet, keratoglobus, blå senhinna och ledöverrörlighet	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Periodontal Ehlers-Danlos syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
kutan asteni hos hundar och/eller katter	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Chondrodysplasia punctata, X-linked dominant type (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Juvenile fucosidosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Adult fucosidosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
X-bunden dominant chondrodysplasia punctata, Happle	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Periodontal Ehlers-Danlos syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
hornhinnefragilitet, keratoglobus, blå senhinna och ledöverrörlighet	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
zygo-auro-mandibulär dysostos	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Periodontal Ehlers-Danlos syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Otomandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Intermandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
hornhinnefragilitet, keratoglobus, blå senhinna och ledöverrörlighet	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Kohlschutter's syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Ectodermal dysplasia with hair-tooth-nail-sweating defect	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hypohidrotic X-linked ectodermal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Roselli-Gulienetti ectodermal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Basan syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Greither type of ectodermal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Anonychia with bizarre flexural pigmentation	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Tricho-onychodental dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ectodermal dysplasia with hair-tooth-nail defects	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Schoepf-Schulz-Passage syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Odonto-onychial dysplasia with alopecia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Fried's tooth and nail syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hypodontia and nail dysgenesis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Dermodental dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Salamon's syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ectodermal dysplasia, syndactyly and pili torti	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dwarfism, alopecia, pseudoanodontia, cutis laxa	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hypohidrosis-diabetes insipidus syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ectodermal dysplasia with hair-tooth defects	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Odontotrichomelic syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Orofacial-digital syndrome III	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2

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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
755582019	Congenital dysplasia (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
8221000052116	kongenital dysplasi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)