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
Lobulated tongue	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Hamartoma of tongue	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Tracheobiliary fistula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Familial hypoplastic, glomerulocystic kidney	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Cake kidney	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Bifid kidney	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital calyceal diverticulum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Nephronophthisis - medullary cystic disease	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital obstructive defect of renal pelvis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Megacystis-megaureter syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital gastrointestinal-urinary tract fistula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital postural curvature of spine	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Bregeat's syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital valvular insufficiency	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Persistent vertical vein	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Aland eye disease and ocular albinism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Bilateral renal hypoplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Fibrocystic kidney disease	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital renal failure	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital abnormality of thoracic aorta and pulmonary arteries	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Transient tricuspid regurgitation of newborn	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital nephritis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital uraemia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital hydrocalicosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Venous remnant	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Persistent descending vein	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital penile torsion	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital abnormality of vein	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type B (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type C (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type D (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Lissencephaly with cerebellar hypoplasia type F	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Lissencephaly type 1 due to doublecortin gene mutation (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Goniodysgenesis with intellectual disability and short stature syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
lissencéphalie type 1 inexpliquée	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Craniotelencephalic dysplasia (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
X-linked lissencephaly with abnormal genitalia syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Lissencephaly syndrome Norman Roberts type (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Hydrocephalus with cleft palate and joint contracture syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	14
Lissencephaly due to tubulin alpha 1A mutation (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	7
Disorder of sex development with intellectual disability syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Congenital anomaly of the urinary tract proper (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	9
Congenital agenesis of brainstem nuclei	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Carrier of haemochromatosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital nystagmus with sensory abnormality	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital nystagmus without sensory abnormality	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Macrocephaly, short stature, paraplegia syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	9
Persistent hyperplastic primary vitreous	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital anomaly of mother complicating pregnancy (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Microlissencephaly micromelia syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	5
Gingival cysts of infant	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Carrier of chromosome translocation (finding)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Carrier of beta thalassemia (finding)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Carrier of hemoglobinopathy C disorder (finding)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Carrier of alpha thalassemia (finding)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Carrier of hemoglobinopathy E disorder (finding)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Carrier of fragile X chromosome (finding)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Carrier of high risk cancer mutation gene (finding)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Carrier of heritable cancer (finding)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Mesio-occlusion of teeth	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
antéversion congénitale du fémur (constatation)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital portal-systemic shunt	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Duane's syndrome, type 1	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Duane's syndrome, type 2	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Duane's syndrome, type 3	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of mandible	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of ocular adnexa	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of cornea	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of lens	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital corneal opacity interfering with vision	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Incomplete anencephaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Congenital anomaly of aortic valve	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Embedded tooth	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
anomalie congénitale de la trachée	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital phlebectasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
syndrome de Dandy-Walker-polydactylie postaxiale	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	8
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	12
Atrophia bulborum hereditaria	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Double kidney AND/OR pelvis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Female Kallman's syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital small renal papilla	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital hypoplasia of renal papilla	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Encephalocele of orbit	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Congenital malformation	est un(e) (attribut)	False	Congenital anomaly	Inferred relationship	Some
Premature tooth eruption	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital arteriovenous fistula of kidney	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	5
Lip hypertrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Carrier of Duchenne muscular dystrophy (finding)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Carrier of Canavan disease (finding)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Carrier of hemoglobinopathy disorder (finding)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Carrier of familial dysautonomia (finding)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Carrier of muscular dystrophy (finding)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital anomaly of eye	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Nodular calcific aortic valve stenosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Sturge-Weber syndrome (disorder)	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