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
agenesi, hypoplasi och dysplasi av lunga	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Inverted pelvis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of chromosome pair 2	Associated morphology	False	kongenital anomali	Inferred relationship	Some
medfödd abnormitet i förmak och förmaksseptum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Congenital malformation of circulatory system, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incontinentia pigmenti syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Trisomy X syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Sacral spina bifida with hydrocephalus - closed (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Pulmonary trunk atresia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital commissural pits	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duane syndrome with vertical deviation (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Other specified ear anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Keratolysis exfoliativa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of tongue	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ring chromosome 18 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Coronary sinus defect in left atrium	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of alisphenoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital fecaliths causing obstruction (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other congenital anomaly of adrenal gland NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Midline cervical cleft (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital thickening of tarsal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida with hydrocephalus - closed NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Separation of tarsal coalition	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Hyperplastic tooth follicle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Bicornuate uterus - baby delivered with postpartum complication	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormality of liver and/or biliary tract (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
bilaterala förmak	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other specified congenital malformations of peripheral vascular system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Atresia of urethra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cutis laxa, autosomal dominant	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital retrognathism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of thorax	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomalies of pancreas NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
[X]Other specified congenital malformations of respiratory system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Thoracic spina bifida with hydrocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital pulmonary venous atrium	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified congenital hydrocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Gillespie syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Harlequin fetus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Whole chromosome monosomy - meiotic nondisjunction (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of cardiovascular structure of trunk	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hydrocalicosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Uterus acollis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
12q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
medfödda käkdeformiteter	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Defect of skull ossification	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified brain anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lumbar spina bifida with hydrocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Pulmonary trunk hypoplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other congenital anomalies of fingers	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of epidermal appendages	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Thoracolumbar spina bifida with hydrocephalus - closed	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Dentate dysplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other endocrine gland anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
öppen defekt i kotpelaren med hydrocefalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Congenital anomaly of myocardium	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other liver or biliary system anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hypoplasia of epididymis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Olive dysplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital systemic venous atrium	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Splenoportal vascular anomaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dysgenesis of the brainstem	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Prune belly syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Congenital abnormality of lacrimal drainage system (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypoplasia of nipple	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of endocrine testis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Vascular neurocutaneous syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified digestive system anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Eustachian tube anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Embedded tooth	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypoplasia of lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Balanced coronary system (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other specified congenital malformations of urinary system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital ichthyosis, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypoplasia of brain gyri	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital thickening of fibula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cranial dysostosis NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of parathyroid gland NEC NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of lung	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Congenital malformation of bony thorax, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Klinefelter's syndrome XXXXY	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Other anomalies of uterus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital accessory skin tag	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Other undergrowth of limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Conditions due to anomaly of unspecified chromosome NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Posterior embryotoxon (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of tongue	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of mandible	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital leukonychia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other congenital heart anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital thickening of ilium	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Closed spina bifida with Arnold-Chiari malformation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duane's syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
partiellt monosomi 12p-syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Glycogenosis with glucoaminophosphaturia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital postural curvature of spine NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Unspecified anomaly of cartilage	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Major partial trisomy	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of gastrointestinal tract	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bipartite ossification of interparietal bone	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)