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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly	est un(e) (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some
Congenital anomaly	est un(e) (attribut)	Developmental abnormality	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
[X]Unspecified spina bifida with hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Abnormal blue sclerae	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Trisomy 7	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Unspecified anomaly of kidney	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other cardiovascular system anomaly NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital functional disorders of the colon	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of ulna (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lethal glossopharyngeal defect	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 12	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
incurvation congénitale des os de la jambe	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Upper limb or shoulder anomaly NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Earpit syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other specified congenital malformations of brain	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Polycoria	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Thoracic spina bifida with hydrocephalus - open	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
[X]Other specified congenital malformations of nervous system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Vertical orbital dystopia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
anomalie du chromosome 9 (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other toe anomalies NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pallister-Killian syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital anomalies of foot NEC	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified brain anomalies NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hitch-hiker thumb (finding)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Skull, face or jaw congenital deformities NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Right ventricular outflow tract absent	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Correction of clinodactyly with osteotomy and bone graft	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Anomaly of chromosome X	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Dumbbell-shaped cartilaginous centrum of cervical vertebra	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords to papillary muscle on right ventricular side septum (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Constriction ring syndrome of upper limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
anomalie congénitale de l'appareil génital masculin	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital malposition of hindpaw phalanx	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Anomaly of the vena cava, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Goniodysgenesis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
epidermodysplasie verruciforme	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital tracheobronchomegaly (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Agenesis of nerve NEC	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Realignment of congenital ulnar drift	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of carpal bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Right ventricular outflow tract atresia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of salivary gland	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Sacral agenesis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Posterior segment vascular anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Trisomy 8	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Urinary system anomalies NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Finnish congenital nephrotic syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of orbit proper (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital miosis (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pili annulati	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
XY, female phenotype	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Supraorbital facial cleft - Tessier cleft 10	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomalies of foot NEC NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Shwachman syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Keratoderma plantare sulcata	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Trisomy 6	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Common arterial trunk (truncus arteriosus)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Tendon transfer and arthrodesis to correct claw toe	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	3
Right ventricular outflow obstruction - tubular	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified spinal cord anomalies NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pseudo-polycoria	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified transposition of great vessels	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Complete trisomy 14 syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital malformation of angle of anterior chamber of eye	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital iris ectropion (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other GIT congenital anomaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of aortic valve	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 9	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Generalized congenital intestinal dysmotility (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Abdominal wall anomaly NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other congenital malformations of pulmonary artery	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Spinal cord anomalies NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Duplication of femur	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 11	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Duplication of whole lower limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Accessory pancreas	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Other specified spinal cord anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Humeroulnar synostosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Transitional vertebra (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Amelogenesis imperfecta - hypoplastic autosomal dominant - rough	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Cervical aortic arch	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dumbbell-shaped cartilaginous centrum of sacral vertebra	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hypoplasia of heart NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital cysts of the posterior segment	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other congenital digestive system anomaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lipomeningocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital crossed toes	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hemimyelia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital anomaly of tongue, salivary gland AND/OR pharynx	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Unspecified anomaly of urethra	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other and unspecified anomalies of eyelid, lacrimal system or orbit	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Constriction ring of upper limb with acrosyndactyly and amputation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital knee joint deformity NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Craniolacunia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Multiple benign annular creases of extremities	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Incomplete great vessel transposition	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Partial hypoplasia of optic disc	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
[X]Congenital malformations of eye, ear, face and neck	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other liver and biliary anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Paramedian facial cleft - Tessier cleft 3	morphologie associée (attribut)	False	Congenital anomaly	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
280471000077112	anomalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
561791000077117	anomalie congénitale (anomalie morphologique)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core