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
Mondini defect	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital abnormal shape of tympanic anulus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital anomalies of lumbar vertebrae NEC	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Liver anomaly, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of face bones	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Acroerythrokeratoderma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Giant right atrium	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital deformity of chest wall	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Bipartite ossification of centrum of sacral vertebra	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
malformation congénitale de l'oreille	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Specified nail anomalies NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cyanotic congenital heart disease	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Neurofibromatosis syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital hypothyroidism with ectopic thyroid	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
anomalie du chromosome 6 (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital bowing of long leg bone, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Female with more than three X chromosomes	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital anomaly of optic nerve	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
High anorectal malformation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Naso-palatine duct cyst (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Mirror hands	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Corrected transposition of great vessels	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Localized microdontia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Imperforate urinary meatus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cervical spina bifida with hydrocephalus - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Other bladder or urethral anomaly NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Liver and biliary system anomalies, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other congenital anomaly of vagina	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Agenesis of part of brain NEC	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cyclopia (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Closure of cleft foot	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Ulnar and humeroulnar synostosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
spina bifida aperta	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital abnormality of scrotum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Bipartite ossification of supraoccipital bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Glycogen storage disease, type I	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of spleen (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cryptophthalmos (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Circulatory system anomaly NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
9q partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Dentinogenesis imperfecta - Shield's type III	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Robert's pelvis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of abdomen	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
hypoplasie dermique en aires	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Impervious urethra	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Tetralogy of Fallot NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Syringomyelia and syringobulbia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Primary endocardial fibroelastosis of right ventricle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of endocrine ovary	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of adrenal gland	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Combined malformation of central nervous system and skeletal muscle (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of broad ligament	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Synophrys	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Metatarsal osteotomy for correction of congenital deformity of foot	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Right atrial hypoplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Renal pelvis and ureter obstructive defects	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
anomalie du chromosome 18 (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
[X]Congenital malformation of tricuspid valve, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of spermatic cord	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Aortic arch centrally descending	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Neuronal intestinal dysplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Porokeratosis of Mantoux	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
McCauley operation	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Lack of ossification of arch of cervical vertebra	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified nervous system anomalies NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pelvis justo major	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of liver	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital genu recurvatum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital pulmonary valve abnormality	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified congenital anomalies of posterior segment	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Posterior chamber vascular anomalies NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Barkan membrane	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Branchial cleft external sinus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Diffuse hypoplasia of left ventricle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital malformation of vitreous humour	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Spina bifida without mention of hydrocephalus, site unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Whole chromosome trisomy - mitotic nondisjunction mosaicism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Cerebrovascular system anomaly NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Foramen ovale valvar aneurysm	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Uterus bicameratus vetularum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomalies of cerebrum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Harlequin ichthyosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Undergrowth of whole upper limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Talipes, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Midline deviation of dental arch	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital anomaly of finger	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Klinefelter's syndrome, XXYY	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
High assimilation pelvis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lumbosacral prespondylolisthesis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Fetal aminopterin syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
2p partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital anomaly of uvula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital abnormality of uterus affecting obstetric care	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of posterior segment of eye	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital abnormal fusion of hindpaw phalanx	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Anomalies of spine NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Balanced autosomal translocation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Spina bifida	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Complete trisomy 9 syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital spine deformity NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Specified anomaly of sclera NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1

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POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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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