6920004: Defect (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2023. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Defect	Is a	Mechanical abnormality (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Defect	Is a	Mechanical lesion	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Persistent ostium secundum	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Malaligned atrial septum	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Double outlet right atrium	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital atrial septal defect (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Restrictive interatrial communication with obligatory shunt (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Patching of coronary sinus atrial septal defect	Direct morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Double outlet left atrium (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Interatrial communication through coronary sinus orifice (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Atrial septal defect with endocardial cushion defect, partial type (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Ostium primum defect	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Defect of skin of hand	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lutembacher's syndrome	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Acquired defect of skull (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Repair of spondylolysis using hook screw (procedure)	Direct morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Perinatal skull defect	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	5
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinical features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy.	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Detachment of right retina co-occurrent with retinal defect	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Defect of retina of right eye	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Visual field defect of left eye (finding)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Defect of retina of bilateral eyes	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Defect of retina of bilateral eyes	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Defect of retina of left eye	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Horseshoe tear of retina of left eye without detachment	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Horseshoe tear of retina of right eye without detachment (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Round hole of retina of bilateral eyes (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Round hole of retina of bilateral eyes (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Round hole of retina of left eye (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Round hole of retina of right eye	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Post-infarction ventricular septal defect	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Detachment of left retina co-occurrent with retinal defect	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Acquired atrial septal defect (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atrial septal defect, atrioventricular conduction defect syndrome (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Defect of vertebral endplate	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Residual interatrial communication following procedure	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Recurrent interatrial communication following procedure	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ventricular septal defect following procedure (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Visual field defect of right eye (finding)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acquired ventricular septal defect (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pericarditis associated with atrial septal defect	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Kartagener syndrome	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Cystic fibrosis without meconium ileus (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cystic fibrosis with meconium ileus	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Immotile cilia syndrome	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cystic fibrosis of the lung	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cystic fibrosis	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mucociliary clearance defect	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Inherited mucociliary clearance defect	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Primary ciliary dyskinesia due to transposition of ciliary microtubules	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Immotile cilia syndrome due to defective radial spokes	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Immotile cilia syndrome due to excessively long cilia	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Young's syndrome	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rutland ciliary disorientation syndrome	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acquired mucociliary clearance defect (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Secondary ciliary dyskinesia	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Transient mucociliary clearance defect	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cystic fibrosis of pancreas	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
diabète sucré concomitant et dû à la mucoviscidose	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Exocrine pancreatic manifestation co-occurrent and due to cystic fibrosis (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fetal cystic fibrosis	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cystic fibrosis with intestinal manifestations	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Classical cystic fibrosis	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Atypical cystic fibrosis (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Subclinical cystic fibrosis	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Eisenmenger's syndrome (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acquired cardiac septal defect	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital septal defect of heart	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ventricular septal defect due to and following infective endocarditis (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ventricular septal defect following procedure (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Developmental failure of fusion (morphologic abnormality)	Is a	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)
Interatrial communication through coronary sinus orifice (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Atrial septal defect with endocardial cushion defect, partial type (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Restrictive interatrial communication with obligatory shunt (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atrial septal defect, atrioventricular conduction defect syndrome (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
The more common indirect type of communication where the flow of blood is from the left ventricle through a ventricular septal defect into the right ventricle and then through a defect in the tricuspid valve into the right atrium.	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Multiple intracardiac shunts	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinical features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy.	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital tracheocele	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acquired spondylolysis of lumbosacral spine	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Trichothiodystrophy (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Genetic defect of hair shaft (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Clastothrix	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
PIBIDS syndrome, photosensitivity with IBIDS	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinal hydromeningocele	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Multiple defects of bilateral retinas without detachment	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Multiple defects of bilateral retinas without detachment	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Multiple defects of retina of right eye without detachment	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Multiple defects of retina of left eye without detachment	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral visual defect of eyes	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral visual defect of eyes	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acquired spondylolysis of lumbar spine (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Reconstruction of defect of maxilla with skin graft	Procedure morphology (attribute)	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral peripheral visual field defect	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral peripheral visual field defect	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Peripheral visual field defect of left eye (finding)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Peripheral visual field defect of right eye (finding)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Start Previous Page 9 of 10 End

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

POSSIBLY EQUIVALENT TO association reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
12439018	Defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
809119010	Defect (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
12439018	Defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
12439018	Defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
809119010	Defect (morphologic abnormality)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
809119010	Defect (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core