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
Hyperplastic tooth follicle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Bicornuate uterus - baby delivered with postpartum complication	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital abnormality of liver and/or biliary tract (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Bilateral atria	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other specified congenital malformations of peripheral vascular system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Atresia of urethra	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cutis laxa, autosomal dominant	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital retrognathism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital anomaly of thorax	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomalies of pancreas NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
[X]Other specified congenital malformations of respiratory system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Thoracic spina bifida with hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital pulmonary venous atrium	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified congenital hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Gillespie syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Harlequin fetus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Whole chromosome monosomy - meiotic nondisjunction	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital anomaly of cardiovascular structure of trunk	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital hydrocalicosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Uterus acollis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
12q partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Jaw congenital deformities	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Defect of skull ossification	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified brain anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lumbar spina bifida with hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Pulmonary trunk hypoplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other congenital anomalies of fingers	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of epidermal appendages	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Thoracolumbar spina bifida with hydrocephalus - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Dentate dysplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other endocrine gland anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Fissured spine with hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Congenital anomaly of myocardium	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other liver or biliary system anomalies NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital hypoplasia of epididymis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Olive dysplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital systemic venous atrium	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Splenoportal vascular anomaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dysgenesis of the brainstem	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
syndrome prune belly (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Congenital abnormality of lacrimal drainage system (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hypoplasia of nipple	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of endocrine testis (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Vascular neurocutaneous syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified digestive system anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Eustachian tube anomalies NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Embedded tooth	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hypoplasia of lower limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Balanced coronary system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other specified congenital malformations of urinary system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital ichthyosis, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hypoplasia of brain gyri	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital thickening of fibula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cranial dysostosis NEC	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomaly of parathyroid gland NEC NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other congenital malformations of lung	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Congenital malformation of bony thorax, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Klinefelter's syndrome XXXXY	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Other anomalies of uterus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital accessory skin tag	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Other undergrowth of limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Conditions due to anomaly of unspecified chromosome NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Posterior embryotoxon (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other congenital malformations of tongue	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 leukonychia (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other congenital heart anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital thickening of ilium	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Closed spina bifida with Arnold-Chiari malformation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Duane's syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
12p partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Glycogenosis with glucoaminophosphaturia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital postural curvature of spine NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Unspecified anomaly of cartilage	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Major partial trisomy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
anomalie congénitale du tractus gastro-intestinal	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Bipartite ossification of interparietal bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Complete absence of alimentary tract NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Epitheliogenesis imperfecta lingua bovis (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of ear with impairment of hearing	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Incomplete ossification of parietal bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Atretic right superior vena cava	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Congenital malformations of palate, not elsewhere classified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital thickening of femur	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of peritoneum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Triple kidney with triple pelvis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ichthyosis follicularis with alopecia and photophobia (IFAP)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lumbar myelocystocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of lip	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lack of ossification of zygomatic bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Incomplete ossification of nasal bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of appendix	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Chromosomal alterations of group F	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Agenesis of brain, part unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital abnormality of great veins and coronary sinus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Precocious exfoliation due to ectopic eruption of proximate tooth (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Incomplete ossification of palatine bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Aplasia of brain, part unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Macerated fetus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1

Start Previous Page 95 of 124 Next End

Reference Sets

Concept inactivation indicator reference set

Description inactivation indicator reference set

GB English

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

Back to Start

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