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
Congenital CNS anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cobb's syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of radius	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dickson-Diveleys operation	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Uterus bilocularis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomalies of spleen NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Reduction of macrodactyly of toe	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of palate	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Acephalobrachius	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital dislocation of elbow (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Multifocal retinal dysplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypertrichosis with congenital macrogingivae (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of diaphragm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital lip pits	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
avsaknad av benbildning i svanskotbåge	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of musculoskeletal structure of trunk	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Liver or biliary system anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital clubbed paw	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
familjär fokal facial dermal dysplasi	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Moon's molar teeth	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Congenital malformation of larynx, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
blefarofimossyndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital ranula (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Thoracic myelocystocele	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Tubule of epoophoron	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
18p partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Incomplete ossification of squamosal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Single vessel of umbilical cord	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified correction of congenital deformity of hand	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Commissural fusion of aortic valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
persisterande fetal cirkulation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cleft mandible	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Bilateral superior vena cava	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of ocular adnexa (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of pharynx	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of fibula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Parkes Weber syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Heart bulb or septal closure defects NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Kohlschutter's syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital hydrocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Mosaic XY/XXY	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Preductal interruption of aorta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified birthmark	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Persistent aortic arch convolutions	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dolichopellic pelvis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
3p partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of lower alimentary tract	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Additional sex chromosome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital abnormality of uterus in pregnancy, childbirth and the puerperium	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Deletions with other complex rearrangements	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital thickening of forepaw phalanx	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of esophagus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
balanisk hypospadi	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormality of iris and ciliary body	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Mosaic including XXXXY	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Balanced rearrangements and structural markers NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some
längdförlust hos tandbåge sekundärt till förlust av primära tänder	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Developmental anomaly of vitelline duct (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Absent bridging vein	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Klinefelter's syndrome XXXY	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Other spina bifida with hydrocephalus NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital ringed hair	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
vid undersökning: hönsbröst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cystic testicular dysplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital ichthyosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Marie Unna syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of intestinal tract	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of cartilage	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Accessory tissue on pulmonary valve cusp	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Mis-shapen spleen	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of nails	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other heart bulb and septal closure defect	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Developmental malformation of branchial arch (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
kluven njure	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Talipes (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other deletions from the autosomes	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of squamosal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other specified congenital malformations of stomach	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital ichthyosiform erythroderma	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Sex chromosome mosaicism (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital flat back deformity (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomalies of thoracic cage unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of chromosome pair 20	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Lack of ossification of squamosal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Unspecified anomaly of bones	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other congenital anomaly of cervix	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of hyoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Occipital dysplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of congenital deformity of heart (procedure)	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Other duplication of limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Tubular hypoplasia of aorta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomalous muscle bands of left ventricle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of scapula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other specified congenital malformations of skin	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of radius	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bronchial atresia with segmental pulmonary emphysema	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Other congenital skin anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
neurofibromatos typ 3	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital enlarged nails	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Atresia of anterior urethra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1

Start Previous Page 108 of 124 Next End

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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
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)