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
Ectopic testis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital atresia of duodenum	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Bifid thumb	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Ectopic anus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital absence of prostate	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Enlarged tongue	Associated morphology	False	kongenit anomali	Inferred relationship	Some	6
Congenital absence of coronary artery	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital supravalvular pulmonary stenosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital absence of vas deferens	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Spina bifida with hydrocephalus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	7
Testicular regression syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Accessory lacrimal canal	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital cyst of canal of Nuck	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital corneal opacity not interfering with vision	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital hypoplasia of pulmonary artery	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital syphilitic splenomegaly	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital tracheobronchomegaly	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital absence of tibia and fibula	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Accessory lacrimal gland disorder	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Dobbelt ductus arteriosus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Dobbelt ductus arteriosus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Congenital atresia of nasopharynx	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Anomalous pulmonary venous drainage	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital absence of penis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Cleft leaflet of tricuspid valve	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Cleft leaflet of tricuspid valve	Associated morphology	False	kongenit anomali	Inferred relationship	Some	4
Duplication of duodenum	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Kongenit ptose i øvre øjenlåg	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Splenogonadal fusion	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital stenosis of inferior vena cava	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Ectopic ovary	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
komplet unilateral læbespalte	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Incomplete bilateral cleft lip	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Congenital atresia of tricuspid valve	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital atresia of tricuspid valve	Associated morphology	False	kongenit anomali	Inferred relationship	Some	4
Acephalocheiria	Associated morphology	False	kongenit anomali	Inferred relationship	Some	4
Ulnar dimelia	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Cleft hard and soft palate (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Aperts syndrom	Associated morphology	False	kongenit anomali	Inferred relationship	Some	5
Brachygnathism	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital absence of eyelash	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital chordee (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Ectopic spleen	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of parathyroid glands	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Vascular ring of aorta	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Vascular ring of aorta	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital absence of patella	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Cleft palate with cleft lip	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Situs inversus abdominalis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Cleft lip sequence	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital adhesions of tongue	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Streak ovary (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Accessory salivary gland	Associated morphology	False	kongenit anomali	Inferred relationship	Some	4
Longitudinal deficiency of upper limb	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Situs inversus thoracis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Bilateral left-sidedness sequence	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Short rib-polydactyly syndrome, Majewski type	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Thoracogenic scoliosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Coronary artery arising from main pulmonary artery	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Tongue absent	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital atresia of epiglottis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Congenital absence of inferior vena cava	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Persistent tuberculum impar	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Persistent tuberculum impar	Associated morphology	False	kongenit anomali	Inferred relationship	Some	5
Congenital absence of eustachian tube	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Anomalous origin of coronary artery	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Lingual goiter	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Congenital absence of anus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Incomplete bilateral cleft palate with cleft lip	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Cheilognathoschisis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Cheilognathoschisis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	14
Double mitral valve	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Double mitral valve	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Cleft leaflet of mitral valve	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Cleft leaflet of mitral valve	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Accessory hepatic duct	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Dekstroposition af ductus arteriosus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Dekstroposition af ductus arteriosus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Dekstroposition af ductus arteriosus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Bifid patella	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Van der Woude syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital atresia of broad ligament	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Rudimentær patella	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Cleft lip	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Congenital anomaly of thyroid cartilage	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Complete bilateral cleft lip	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Beckwith-Wiedemann syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some	6
Congenital stenosis of mitral valve	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital stenosis of mitral valve	Associated morphology	False	kongenit anomali	Inferred relationship	Some	4
Patent ductus arteriosus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Patent ductus arteriosus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Corrected transposition of great vessels	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Corrected transposition of great vessels	Associated morphology	False	kongenit anomali	Inferred relationship	Some	6
Congenital atresia of small intestine	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Bifid tongue	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Dural arteriovenous malformation (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Dural arteriovenous malformation (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	4
Common arterial trunk and widely separate origin of pulmonary arteries (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital hypoplasia of testis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Agenesis of pulmonary artery	Associated morphology	False	kongenit 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
2848101000005119	kongenit anomali	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)