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 displacement of gastric mucosa	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hyperganglionosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital parameatal cyst	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hypoplasia of upper limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Duplication of fibula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pseudotrisomy 18	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Triploidy and polyploidy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Deletion of part of autosome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Sex chromosome abnormality - male phenotype	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
FRAXA	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Xeroderma pigmentosum, group C	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Mullerian remnant	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
11p partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Stabilization of hypoplastic thumb	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Other correction of congenital deformity of foot NOS	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Correction of minor congenital deformity of foot	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Retinal hemangioblastomatosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital failure of eye elevation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
perte en longueur de l'arcade dentaire à la suite de caries dentaires	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of genital system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Periventricular leukomalacia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of fibula	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
Thoracic spina bifida with hydrocephalus - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Anomalies of hypothalamus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other great vein anomaly NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of cerebral vessel, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital fissure of epiglottis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Other lung agenesis, hypoplasia or dysplasia NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other tongue anomalies NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified esophageal anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified esophageal anomaly NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Unspecified anomalies of stomach	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other anomalies of intestine	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other congenital anomaly of gallbladder	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hydatid cyst of Morgagni - male	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Scaphoid-lunate synostosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Proximal interphalangeal joint symphalangism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomaly of spine, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Whole chromosome trisomy, meiotic nondisjunction (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Partial trisomy syndromes	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Hypoplasia of spleen	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomaly of thymus gland NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other congenital malformations of posterior segment of eye	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Congenital malformations of the urinary system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other congenital malformations of breast	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
17p partial trisomy syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Low assimilation pelvis (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Fetus papyraceous	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital absence of claw	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital absence of forepaw phalanx	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital abnormal fusion of carpal bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital abnormal fusion of presphenoid bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital abnormal shape of basisphenoid bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital abnormal shape of supraoccipital bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital anomaly of basioccipital bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of pubis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital branched rib	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital blepharophimosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lack of ossification of palatine bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lack of ossification of parietal bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lack of ossification of rib	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital hypoplasia of forepaw phalanx	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital hypoplasia of presphenoid bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital malposition of claw	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital thickening of humerus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dumbbell ossification of centrum of caudal vertebra	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dumbbell ossification of centrum of lumbar vertebra	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Incomplete ossification of centrum of cervical vertebra	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Incomplete ossification of forepaw phalanx	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Incomplete ossification of presphenoid bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Incomplete ossification of rib	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lack of ossification of auditory ossicles	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lack of ossification of centrum of sacral vertebra	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of hyoid bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
tétrasomie 12p (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital anomaly of joint	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of jaw	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital vesico-ureteric reflux	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Atresia of pupil	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Duplication seen only at prometaphase	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Pharyngeal pituitary tissue	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
hypotonie congénitale bénigne	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Incomplete ossification of centrum of caudal vertebra	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified stomach anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dominant congenital ichthyosiform erythroderma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
anomalies fœtales congénitales	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Peripheral vascular system anomaly NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Duplex ureter structure	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
anomalie du chromosome 16 (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital anomaly of trunk	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Bifid patella	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital anomaly of renal pelvis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Sirenoform monster	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of membranous labyrinth	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomaly of chromosome pair 19	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Uterus bicornuatus vetularum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pancreatic colipase deficiency	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hydromeningomyelocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Modified Johanson operation for claw toe with arthrodesis	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2

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Reference Sets

Concept inactivation indicator reference set

Description inactivation indicator reference set

GB English

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