107656002: Congenital anomaly (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

172092016 Congenital anomaly en Synonym Active Entire term case insensitive SNOMED CT core module

593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly	Is a	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier
Congenital anomaly	Is a	Developmental anomaly	false	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Tricuspid annulus hypoplasia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Anterior leaflet of mitral valve attached to septum	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of tricuspid valve	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Diffuse neurofibroma	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of hyoid bone	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of hyoid bone	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Venous-lymphatic malformation	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Cyst of omentum	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Congenital ankyloblepharon	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Cavernous hemangiomas of face and supraumbilical midline raphe	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	4
Anomaly of tongue, unspecified	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Peutz-Jeghers syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	4
Congenital absence of subclavian artery	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Congenital anomaly of lacrimal passages NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Eccentric opening of aortic valve	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Duplication of femur	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Constriction ring of lower limb	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of nasal turbinate	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Other tongue anomalies NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Peutz-Jeghers polyps of small bowel	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of endocrine testis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital uterovesical fistula	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
[X]Other congenital malformations of eyelid	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Ichthyosis congenita with biliary atresia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Unspecified spina bifida with hydrocephalus - open	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	5
Coronary sinus orifice atresia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Unicuspid aortic valve	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Transient tricuspid regurgitation of newborn	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Duplication of fibula	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Café-au-lait macules with pulmonary stenosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Anomalous pulmonary venous drainage to right atrium	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Incomplete ossification of premaxilla	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Aortic valve cusp abnormality	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Mesonephric duct cyst	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Eyelid vascular anomalies	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Ebstein's anomaly of tricuspid valve	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital absence of premaxilla	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Aortic valve cusp prolapse	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital malposition of subclavian artery	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Lumbar spina bifida with hydrocephalus - open	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Rachischisis with hydrocephalus	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Abnormality of aortic arch branch	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Supernumerary cusps of the mitral valve	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Familial multiple café-au-lait macules without neurofibromatosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Ebstein-like malformation of mitral valve	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Congenital atresia of tricuspid valve	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Congenital supravalvular mitral stenosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Double mitral valve	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Agenesis of cilia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Complete perimaxillary faciosynostosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
D - transposition of the great vessels	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Abnormality of right superior vena cava	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital rectovaginal constriction of Jersey cattle	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	4
Congenital rectovaginal constriction of Jersey cattle	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital mitral stenosis NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Atretic right superior vena cava	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital ptosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Accessory lacrimal canal	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Thoracoceloschisis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Congenital bronchomalacia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Posterior perimaxillary faciosynostosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital abnormality of lacrimal passage	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Spina bifida with hydrocephalus - closed	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	5
Isolation of brachiocephalic trunk	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly of eyelid	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Fissured spine with hydrocephalus	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	7
Congenital insufficiency of tricuspid valve	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Lack of ossification of mandible	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Tuberous sclerosis syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Isolation of common carotid artery	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Other lower limb and pelvic girdle anomaly NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Other specified congenital eyelid anomalies	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Duplication of lower limb bone	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Overriding mitral valve	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital abnormal shape of premaxilla	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Fistula colli congenita	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Primordial cyst	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Congenital fistula of lip	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Congenital lower lip pits	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital abnormal shape of tricuspid valve	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Ankyloblepharon	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital hiatus hernia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	4
Congenital hiatus hernia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Complete transposition of great vessels	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	4
[X]Unspecified spina bifida with hydrocephalus	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	7
Tricuspid leaflet abnormality	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Leydig cell agenesis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly of tracheal cartilage	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Straddling mitral valve	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Transient mitral regurgitation of newborn	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Congenitally small punctum lacrimale	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital malformation of trachea and bronchus	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Inferior vena cava connecting to morphological left atrium	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of broad ligament	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital undergrowth of whole of lower limb	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital insufficiency of mitral valve	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Dilatation of tricuspid annulus	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Spina bifida with hydrocephalus	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Unilateral undescended testis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Absence of inferior vena cava	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2

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Id	Description	Lang	Type	Status	Case?	Module
172092016	Congenital anomaly	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module