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

27811000052119 kongenital anomali 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 anomali	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some
kongenital anomali	Is a	utvecklingsabnormitet	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Atresia of anterior urethra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Granular cell hypoplasia (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital heart disease	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of thoracic vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other phakomatoses, not elsewhere classified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Mummified fetus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
syndrom med knölar i hårbotten	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Left ventricular-right atrial communication	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Abnormality of right superior vena cava	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lower moiety ureter of duplex kidney	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Short preputial frenulum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital deformity of musculoskeletal system NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Birth mark, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dual coronary orifice (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital musculoskeletal deformity NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital deformity of scapula NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Transposition of aorta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormal shape of forepaw phalanx	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Other congenital anomaly of liver	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lumbar spina bifida without hydrocephalus - open	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödd missbildning i urinvägar	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of sacral vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Netherton's syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
längdförlust hos tandbåge sekundärt till medfödd avsaknad av tänder	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Uncombable hair syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital functional disorders of colon	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital wooly hair (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Neurocutaneous syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida with hydrocephalus - open	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Thoracic spina bifida without hydrocephalus - closed	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of cerebral artery	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
kromosom ersatt av ring- eller dicentrisk kromosom	Associated morphology	False	kongenital anomali	Inferred relationship	Some
dextroposition av ductus arteriosus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
imperforerad esofagus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of supraoccipital bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of chromosome pair 13	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Epispadias (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Persistent hyperplastic primary vitreous	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of endocrine gonad (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Aberrant course of left anterior descending coronary artery from right coronary artery crossing right ventricular outflow tract (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Congenital malformation of intestine, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other specified trisomies and partial trisomies of autosomes	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Thoracic spina bifida without hydrocephalus - open	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital ear anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other congenital anomaly of hepatic or bile ducts	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of congenital deformity of hindfoot (procedure)	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Chromosomal alterations of group G and Y	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Lack of ossification of presphenoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of liver	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Nevus NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Mosaic XO/XX	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Unspecified anomaly of muscle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Chromosomal abnormalities, not elsewhere classified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomalous termination of right pulmonary vein	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Mosaic XO/XY	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Anomaly of sex chromosome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Cardiac septal defects	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital malposition of digestive system NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of clubfoot (procedure)	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of cerebrovascular system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified anomalies of uterus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anteversion of femur	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other muscle, tendon or fascia anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Sacral spina bifida without hydrocephalus - open (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödd anomali i glaskropp	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of vomer	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ring chromosome 22 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital hypoplasia of spleen	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Other congenital limb anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Abnormal liver lobulation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of mouth	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Repair of claw toe	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Upper moiety ureter of duplex kidney	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bregeat's syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Eccentric opening of aortic valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Color changes during tooth formation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other anomaly of tendon, fascia or muscle NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormal shape of hindpaw phalanx	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Intramural coronary artery course	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Truncus arteriosus, Edwards' type IV	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
atresi av pulmonalartär	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Syringomyelobulbia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cervical spina bifida without hydrocephalus - open	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Flexural Darier's disease (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
[X]Other specified congenital malformations of digestive system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Arterial anomaly of umbilical cord	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Branchial cleft vestige NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of scapula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other deletions of part of a chromosome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Evans operation	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Klinefelters syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some
kongenital hypoplasi av underkäken	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Dysgenesis of the cerebellum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital macrognathism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Uterus cordiformis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödd anomali i öra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
makrokolon	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ectopic pancreas	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
[X]Other specified congenital malformations of intestine	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of humerus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of upper limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1

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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
27811000052119	kongenital anomali	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)