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:

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

593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

27811000052119 kongenital anomali sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
kongenital anomali	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some
kongenital anomali	Is a	utvecklingsabnormitet	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital anomaly of upper limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of gallbladder	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other congenital anomalies of peripheral arteries	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Venous valvular anomaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital umbilical defect	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of tibial pseudoarthrosis by free fibula graft	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Miller Dieker syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital malformation of the meninges	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Aplasia of part of brain NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypoplasia of part of brain NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Double eyebrow	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Embryotoxon (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ambiguous atrioventricular connection	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Right sided atrium connecting to ventricle of indeterminate morphology	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Absent right superior vena cava	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Abnormality of left atrial appendage	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Tricuspid annulus hypoplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital right ventricular diverticulum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypoplasia of left ventricular inflow tract	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Accessory tissue on aortic valve cusp	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Aorta to right ventricle tunnel	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Coronary artery runs between aorta and pulmonary trunk	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
missbildning av strupen	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
kongenital dislokation av magsäcksslemhinna	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hyperganglionosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital parameatal cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypoplasia of upper limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duplication of fibula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pseudotrisomy 18	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Triploidy and polyploidy	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Deletion of part of autosome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Sex chromosome abnormality - male phenotype	Associated morphology	False	kongenital anomali	Inferred relationship	Some
FRAXA	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Xeroderma pigmentosum, group C (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Mullerian remnant	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
11p partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Stabilization of hypoplastic thumb	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Other correction of congenital deformity of foot NOS	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of minor congenital deformity of foot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Retinal hemangioblastomatosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital failure of eye elevation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
längdförlust hos tandbåge sekundärt till karies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödd anomali i könsorgan	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Periventricular leucomalacia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of fibula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duane's syndrome, type 1	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Thoracic spina bifida with hydrocephalus - closed	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Anomalies of hypothalamus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other great vein anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of cerebral vessel, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital fissure of epiglottis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Other lung agenesis, hypoplasia or dysplasia NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other tongue anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified esophageal anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified esophageal anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Unspecified anomalies of stomach	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other anomalies of intestine	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other congenital anomaly of gallbladder	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hydatid cyst of Morgagni - male	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Scaphoid-lunate synostosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Proximal interphalangeal joint symphalangism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of spine, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
trisomi för hel kromosom, meiotisk icke-disjunktion	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Partial trisomy syndromes	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Hypoplasia of spleen (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of thymus gland NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of posterior segment of eye	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Congenital malformations of the urinary system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of breast	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
17p partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Low assimilation pelvis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Fetus papyraceous	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital absence of claw	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital absence of forepaw phalanx	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital abnormal fusion of carpal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital abnormal fusion of presphenoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital abnormal shape of basisphenoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital abnormal shape of supraoccipital bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of basioccipital bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of pubis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital branched rib	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital blepharophimosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of palatine bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of parietal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of rib	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hypoplasia of forepaw phalanx	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital hypoplasia of presphenoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital malposition of claw	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital thickening of humerus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
hantelformad benbildning i centrum i svanskota	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dumbbell ossification of centrum of lumbar vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of centrum of cervical vertebra (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of forepaw phalanx	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of presphenoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of rib	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of auditory ossicles	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of centrum of sacral vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of hyoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Tetrasomy 12p syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of joint	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of jaw	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1

Start Previous Page 110 of 124 Next End

Reference Sets

Concept inactivation indicator reference set

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
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
27811000052119	kongenital anomali	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)