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
Congenital undergrowth of foot	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
X-linked ichthyosis with steryl-sulfatase deficiency	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomalous portal vein termination	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital polyneuropathy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
18q partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Myopathy with tubular aggregates	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Preauricular sinus, pit or fistula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cutis laxa, recessive, type II	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other lower limb anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lack of ossification of tarsal bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Vesicular appendix of ovary	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Single outlet ventriculoarterial connection	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Chimera 46, XX; 46, XY	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Myelocystocele of unspecified site	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital undergrowth of lower limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other specified sex chromosome abnormalities, female phenotype	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Deletion of chromosome NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
D - transposition of the great vessels (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital anomaly of lacrimal system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of ilium	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Webbed penis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other anomalies of larynx, trachea and bronchus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital absence of pancreas	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Other specified other correction of congenital deformity of foot	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
syndrome du nourrisson mou (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Autosomal deletion - mosaicism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Dentin dysplasia, type II	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
canal atrioventriculaire, composante ventriculaire	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of anterior chamber of eye	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ring chromosome 4 syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Commissural fusion of pulmonary valve	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Diphallus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other lower limb and pelvic girdle anomaly NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Mosaicism NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Myopathy with cytoplasmic inclusions	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Double outlet from ventricle of indeterminate morphology	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Accessory adrenal cortex	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital vertical mandibular hypoplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
canal atrioventriculaire, composante ventriculaire en dessous du feuillet commun antéro-supérieur	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other sex chromosome anomaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
8p partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Other anomalies of larynx, trachea or bronchus NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
22q partial trisomy (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital anomaly of paw	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Right sided atrium connecting to right ventricle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of larynx	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Neuronal heterotopia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Imperforate hymen	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Whole chromosome monosomy - mitotic nondisjunction mosaicism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Myopathy with abnormality of histochemical fibre type	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Abnormal plantar creases	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pit of optic disc	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Acyanotic congenital heart disease	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other specified congenital musculoskeletal deformities	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Congenital malformations of the nervous system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of parathyroid glands	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of superior vena cava	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of unspecified limb NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified anomalies of unspecified limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Absent left sided atrioventricular connection	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Tongue tie	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Oral lymphangioma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
anomalie du chromosome 8 (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Constriction ring syndrome of lower limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of vulva	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cerebrovascular system anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Abnormal infundibular morphology	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Imperforate vagina (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Type 2 lissencephaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Obstructive heart anomaly NEC	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Incomplete ossification of carpal bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
dégénérescence myxomateuse d'une valve cardiaque	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other obstructive defects of renal pelvis and ureter	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other anomaly of trachea	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Anterior leaflet of mitral valve attached to septum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Inherited disorder of keratinization	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
Truncal valve dysplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital undergrowth of whole of lower limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Left sided atrium connecting to left ventricle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other balanced rearrangements and structural markers	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Myopathy with type I hypotrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Fused mitral papillary muscles	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Duct of epoophoron	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Accessory tissue on truncal valve cusp	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
artère ombilicale unique	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Distal interphalangeal joint symphalangism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Double inlet to ventricle of indeterminate morphology	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other atresia and stenosis of urethra and bladder neck	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Absent atrioventricular connection with straddling valve	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of nasal turbinate	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
20q partial trisomy (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Nagele's pelvis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified primary correction of congenital deformity of foot	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital curly toes	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Precocious exfoliation of teeth due to root resorption following trauma (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Duplication of digestive system NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other specified congenital malformations of kidney	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Primary vesicoureteric reflux	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Spinal cord hypoplasia	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