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
Cervical spina bifida with hydrocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
[X]Other congenital malformations of lower limb(s), including pelvic girdle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Shagreen patch	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Secondary congenital bronchomalacia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Cryptophthalmos (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital tricuspid atresia and stenosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Straddling tricuspid valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
bronchus picus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of uvula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Closed ductus venosus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bronchopulmonary collateral artery	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lateral developmental cyst of jaw	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Anomalous pulmonary venous drainage to hepatic veins	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Constriction ring of lower limb with lymphedema	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Tongue tie	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of vena cava	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pulmonary tuberous sclerosis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Collaterals to pulmonary arteries	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Solitary aortic trunk with pulmonary atresia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Lumbar spina bifida with hydrocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Fallopian tube and broad ligament anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital mitral stenosis, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Hemifacial microsomia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Lack of ossification of hyoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Lack of ossification of hyoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Lutembachers anomali	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Congenital tarsal kink (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Duplication of tarsal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
blefarofimossyndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Persistent tunica vasculosa lentis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Thoracic spina bifida with hydrocephalus - open	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Parachute malformation of tricuspid valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Other lower limb and pelvic girdle anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Imperforate lacrimal punctum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital absence of germinal epithelium of testes	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Euryblepharon (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Multiple café-au-lait macules due to neurofibromatosis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Abnormal connection of hepatic vein to atrium	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Café-au-lait macules with temporal dysrhythmia (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Embryonic cyst of fallopian tube or broad ligament NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Coronary sinus to left ventricle fistula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Solitary pulmonary trunk with aortic atresia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Cleft leaflet of tricuspid valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Constriction ring syndrome of lower limb with amputation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Duplication of the whole foot	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Bilateral craniofacial microsomia (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Lower limb anomaly, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital conjunctival cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of pulmonary veins	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Rudimentary uterus in male	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Periungual fibroma in tuberous sclerosis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Distal origin of brachiocephalic trunk	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bilateral superior vena cava	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Isolation of branch of aortic arch	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital undergrowth of partial lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Spina bifida with hydrocephalus - open NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Abnormal number of aortic valve cusps	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Anomalous pulmonary venous drainage to abdominal portion of inferior vena cava	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
medfödd sjukdom och abnormitet i hjärta, bröstaorta och perikardium	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
medfödd sjukdom och abnormitet i hjärta, bröstaorta och perikardium	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Neurofibromatosis syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Failure of differentiation of bones of lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of premaxilla	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of jaw	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Sacral spina bifida with hydrocephalus - closed (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Congenital myogenic ptosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Fused commissures of mitral valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Fallopian tube or broad ligament anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Unspecified spina bifida with hydrocephalus - closed	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Hypoplasia of eyelid	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of the pulmonary veins, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
unilateral kongenital makrostomi	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Dilatation of mitral annulus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Thoracolumbar spina bifida with hydrocephalus - closed	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Congenital anomaly of mitral valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital malposition of innominate artery	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Lack of ossification of premaxilla	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
medfödd underutveckling av nedre extremitet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Incomplete ossification of hyoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Incomplete ossification of hyoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Other specified congenital eyelid anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital systemic venous atrium	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
neurofibromatos typ 3	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Spina bifida with hydrocephalus - open	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Other specified anomalies of diaphragm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Thoracic spina bifida with hydrocephalus - closed	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
bristande nedsjunkning av testikel, dubbelsidig	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital ball and socket ankle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital macrostomia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Ebstein-like downward displacement of mitral valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital atresia of mitral valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Transverse deficiency of toe	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Pachydermoperiostosis of nail	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of epiglottis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Obstructed pulmonary venous connection	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital dysgenetic ptosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Absent tricuspid leaflet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital cartilage anomaly of third eyelid	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital cartilage anomaly of third eyelid	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Tricuspid annulus hypoplasia	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)