107656002: Congenital anomaly (morphologic abnormality)

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

Descriptions:

Id Description Lang Type Status Case? Module

172092016 Congenital anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2848101000005119 kongenit anomali da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
kongenit anomali	Is a	Morphologically abnormal structure	false	Inferred relationship	Some
kongenit anomali	Is a	dysgenese	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
mellemøreanomali, ikke klassificeret andetsteds, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Anomali i høreknoglerne, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
anomalier af indre øre, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
andre specificerede øreanomalier	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
anomalier af tuba auditoria, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
andre specificerede øreanomalier, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Kongenit øreanomali, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
brankialfurerudiment, uspecificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
brankialfurerudiment, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
præaurikulær sinus eller fistel, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
andre brankialfureanomalier	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
anden og uspecificeret præaurikulær anomali i form af brankialfure, -cyste eller -fistel	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
anden og uspecificeret præaurikulær anomali i form af brankialfure, -cyste eller -fistel	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
præaurikulær anomali af brankialfure, -cyste eller -fistel, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
præaurikulær anomali af brankialfure, -cyste eller -fistel, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
kongenit halsanomali, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
coarctatio aortae, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
total anomal pulmonalt venøst tilbageløb, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Artrogrypose, uspecificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Andre artrogryposesyndromer	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
andre deletioner af en del af et kromosom	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
anden deletion af en del af et kromosom, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
deletioner med andre komplekse rearrangementer	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
monosomi af helt kromosom, mosaicisme, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
andre deletioner fra autosomerne	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
monosomier og deletioner fra autosomerne, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
anden tilstand forårsaget af autosomal anomali	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
andre trisomi C-syndromer	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
andet specificeret helt kromosom-trisomi-syndrom	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
helt kromosom-trisomi-syndrom, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
partiel trisomi-syndrom, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
trisomier af autosomer, ikke klassificeret andetsteds	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
trisomi af autosomer, ikke klassificeret andetsteds, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
balanceret rearrangement eller strukturel markør, ikke klassificeret andetsteds, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Klinefelters syndrom, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
anden kønskromosomanomali	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
kønskromosommosaicisme, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
anden kønskromosomabnormitet, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
kønskromosomanomali, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
kromosomale anomalier, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
mosaicisme, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
ekstra kromosom, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
deletion af kromosom, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
tilstand forårsaget af anomali af uspecificeret kromosom, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Andre specificerede binyreanomalier	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Anden kongenit binyreanomali, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Binyreanomalier, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
andre anomalier af endokrine glandler	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
hypofyseanomali, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
anomalier af thyroidea, ikke klassificeret andetsteds	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
anomali af thyroidea, ikke klassificeret andetsteds, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
anomalier af ductus thyroglossalis, ikke klassificeret andetsteds	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
anden specificeret anomali af endokrin kirtel	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
anomali af endokrin kirtel, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Congenital malformations of the nervous system	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Other reduction deformities of brain	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Other specified congenital malformations of brain	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Other congenital cauda equina malformations	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Other specified congenital malformations of spinal cord	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Other specified congenital malformations of nervous system	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Other congenital malformations of middle ear	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Malformation of ear with impairment of hearing, unspecified	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Other mis-shapen ear	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Other specified congenital malformations of ear	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Other branchial cleft malformations	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Chromosomal abnormalities, not elsewhere classified	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Other specified trisomies and partial trisomies of autosomes	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Other deletions of part of a chromosome	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Other deletions from the autosomes	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Other balanced rearrangements and structural markers	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Balanced rearrangement and structural marker, unspecified	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Other variants of Turner's syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Other specified sex chromosome abnormalities, female phenotype	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Other male with 46,XX karyotype	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Other specified sex chromosome abnormalities, male phenotype	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Other specified chromosome abnormalities	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
[X]Sex chromosome abnormality, male phenotype, unspecified	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Cerebral aplasi, ikke klassificeret andetsteds	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Cerebral hypoplasi, ikke klassificeret andetsteds	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Cerebral agenesi, ikke klassificeret andetsteds	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
manglende øre, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Aneuploidi, ikke klassificeret andetsteds	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Downs syndrom, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Edwards syndrom, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Pataus syndrom, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Turners syndrom, ikke klassificeret andetsteds	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Bonnevie-Ullrichs syndrom, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Spina bifida med hydrocephalus – lukket, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Spina bifida med hydrocephalus – lukket, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Spina bifida uden angivelse af hydrocephalus, uspecificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Spina bifida uden angivelse af hydrocephalus, uspecificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Spina bifida uden hydrocephalus – lukket, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Spina bifida uden hydrocephalus – lukket, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
anden specificeret spina bifida uden hydrocefalus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
anden specificeret spina bifida uden hydrocefalus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Spina bifida uden angivelse af hydrocephalus, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Spina bifida uden angivelse af hydrocephalus, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Reduktionsdeformiteter af hjernen, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
andre specificerede rygmarvsanomalier	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Balancerede ombytninger og strukturelle markører, ikke klassificeret andetsteds	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Andre specificerede tilstande forårsaget af autosomale anomalier	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1

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Reference Sets

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POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

REFERS TO concept association reference set

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Id	Description	Lang	Type	Status	Case?	Module
172092016	Congenital anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2848101000005119	kongenit anomali	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)