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
Congenital abnormal shape of exoccipital bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital anomaly of squamosal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital anomaly of vomer	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Congenital fenestration of parietal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital fenestration of squamosal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Lack of ossification of frontal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Lack of ossification of lacrimal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Lack of ossification of lacrimal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Lack of ossification of squamosal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Antley-Bixler syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Incomplete ossification of frontal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Incomplete ossification of lacrimal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Incomplete ossification of parietal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Incomplete ossification of vomer	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Lack of ossification of alisphenoid bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital hypoplasia of lacrimal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Congenital hypoplasia of parietal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital hypoplasia of squamosal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital hypoplasia of vomer	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Frontal bossing	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Saethre-Chotzen syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital absence of squamosal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital absence of vomer	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Ebstein's anomaly with atrial septal defect	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
anden specificeret korrektion af kongenit deformitet i hofte	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Fused mitral papillary muscles (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Correction of congenital cardiovascular deformity (procedure)	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Creation of conduit of right ventricle and pulmonary artery in repair of pulmonary artery atresia	Direct morphology	False	kongenit anomali	Inferred relationship	Some	4
Multiple anterior segment anomalies	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital positional talipes (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Primary osteotomy of pelvis for correction of congenital deformity of hip	Direct morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital anomaly of claw	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
sekundær atroplastik til korrektion af kongenit deformitet i hofte	Direct morphology	False	kongenit anomali	Inferred relationship	Some	2
Straddling tricuspid valve	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Ebstein-like malformation of mitral valve (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Ponseti manipulation	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital female urogenital anomaly (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital absence of nasal septum	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Spina bifida aperta of lumbar spine (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Reduction of congenital hip dislocation by splint (procedure)	Direct morphology	False	kongenit anomali	Inferred relationship	Some	2
Chiari osteotomy for congenital deformity of hip	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Femoral osteotomy for correction of congenital deformity of hip	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Brankialfure	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Aplasia of cerebellum	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Pelvic osteotomy for congenital deformity of hip	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Reduction of congenital hip dislocation by abduction	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of anterior segment of eye (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
cerebellar anomali, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Coronary sinus defect in left atrium	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
korrektion af kongenit deformitet i hofte, ikke nærmere specificeret	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital deformity of foot	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Aplasia of the vermis (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital flat back deformity (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
foddeformiteter, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Anden specificeret foddeformitet, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
andre deformiteter af fødderne	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Dysgenesis of the cerebellum	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Triple pelvic osteotomy for congenital dislocation of the hip	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Adductor tenotomy for congenital dislocation of hip	Direct morphology	False	kongenit anomali	Inferred relationship	Some	2
Anterior leaflet of mitral valve attached to septum	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Ebstein-like downward displacement of mitral valve	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Dilation of mitral annulus (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Straddling mitral valve	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Excision of limbus for congenital dislocation of the hip	Direct morphology	False	kongenit anomali	Inferred relationship	Some	2
[X]Other congenital deformities of feet	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Double orifice of tricuspid valve	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Intra-articular soft tissue procedure for congenital dislocation of the hip	Direct morphology	False	kongenit anomali	Inferred relationship	Some	2
Reduction of congenital hip dislocation by traction	Direct morphology	False	kongenit anomali	Inferred relationship	Some	2
Pelvic osteotomy for congenital dislocation of the hip	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Correction of congenital deformity of hip	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Dilatation of tricuspid annulus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Osteotomy of ilium for correction of congenital deformity of hip	Direct morphology	False	kongenit anomali	Inferred relationship	Some	2
Extra-articular soft tissue procedure for congenital dislocation of the hip	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of male urogenital tract (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Soft tissue procedure for congenital dislocation of the hip	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Salter osteotomy for congenital deformity of hip	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Shelf procedure for congenital dislocation of the hip	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Tricuspid annulus hypoplasia	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Ebstein's anomaly	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Colonnas operation for kongenit deformitet i hofte	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Open reduction of congenital dislocation of hip	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital talipes calcaneus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
A rare congenital neurological disorder with characteristics of the association of partial bilateral aniridia with non-progressive cerebellar ataxia and intellectual disability. Aniridia is visible at birth as fixed dilated pupils. Non-progressive cerebellar ataxia is associated with delayed developmental milestones and hypotonia, gait and balance disorders with incoordination, intention tremor and scanning speech. Sporadic and familial cases have been observed.	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Anden specificeret foddeformitet	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Correction of congenital deformity of heart (procedure)	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Correction of congenital deformity of great vessels (procedure)	Direct morphology	False	kongenit anomali	Inferred relationship	Some	1
Granular cell hypoplasia	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Familial aplasia of the vermis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of inferior vena cava	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Tubule of paroophoron	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
Atrioventricular septal defect and common atrioventricular junction	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital atresia of ejaculatory duct	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Paraspadias	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
9q partial trisomy syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some
anomali af larynal- eller trakealbrusk, ikke nærmere specificeret	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Right sided atrium connecting to both ventricles (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital overgrowth of lower limb	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Persistent descending vein	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Coronary orifice asymmetrical	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1

Start Previous Page 90 of 124 Next End

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

REFERS TO concept association reference set

Back to Start

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)