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
Branchial cleft cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Ectopic liver (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital nuclear ophthalmoplegia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of rectum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Euryblepharon (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Trisomy 22	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Unspecified nervous system anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
19q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital vesicoureterorenal reflux (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Multiple pterygium syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital laryngeal adductor palsy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödda störningar av öga och ögonlocksrörelser	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of frontal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Humeroradial synostosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Uterus biforis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Unspecified anomaly of the great veins, NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital focal enlargement of rib	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pancreatic duct anomaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
partiellt trisomi 16p-syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Indeterminate ventricular outflow tract obstruction	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Single tooth microdontia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of lacrimal passages NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Interrupted aortic arch between left common carotid and brachiocephalic artery	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital humeral varus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
17q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital cardiovascular disorder in mother complicating pregnancy, childbirth AND/OR puerperium	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Homologous chimera	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Wolffian duct cyst - male	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of congenital deformity of upper limb	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Unspecified nervous system anomaly of brain, cord and nervous system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of eye	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hereditary splenic hypoplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypoplasia of cementum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified obstructive defect of renal pelvis or ureter	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Absence of ear NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of the pelvis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomalies of eyelid, lacrimal system and orbit	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital lordosis/scoliosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Unspecified anomalies of esophagus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormality of foot and toes (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Trisomy 12	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Bullous ichthyosiform erythroderma	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bulbus cordis and cardiac septal closure anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other congenital anomalies of toe	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bayonet hair	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital heterochromia iridis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
freemartin	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Constriction ring syndrome of lower limb with amputation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dumbbell ossification of centrum of cervical vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of male urogenital tract (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Howel-Evans' syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of exoccipital bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Craniometaphyseal dysplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Potter's facies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Mottled teeth, congenital	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified nervous system anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duplication of whole hand (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Liver and/or biliary duplication (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified congenital anomaly of peripheral vascular system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ductus arteriosus from subclavian artery	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Other specified eye anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital leg length discrepancy (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfött cystiskt öra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Genu recurvatum and long leg bone bowing NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital tarsal kink (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Trabecular dysgenesis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of humerus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of urethra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormal shape of carpal bone (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital laryngeal abductor palsy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other eye anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Sarcotubular myopathy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified esophageal atresia, stenosis or fistula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypoplasia of left ventricular outflow tract and trabecular area	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida occulta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of hand (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypoplasia of left ventricular outflow tract	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
10p partial trisomy syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Henck-Assmans sjukdom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Male pseudohermaphroditism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Double uterus affecting pregnancy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
icke-bullös iktyosiform erytrodermi	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of tooth (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duplication of radius	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital ichthyosis of skin	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duplication of tibia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lower limb anomaly, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duplication of tarsal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of trachea	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Reduction of congenital hip dislocation by traction	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Tetralogy of Fallot, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of alisphenoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital malformation syndrome with other skeletal changes NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Renal agenesis and dysgenesis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pulmonary artery anomaly, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
7q partial monosomy	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Bicornuate uterus in pregnancy, childbirth and the puerperium	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other congenital circulatory system anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Trilobular liver	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other tongue anomalies	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)