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
Peripheral visual field defect of right eye (finding)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pentalogy of Fallot	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital pericardial defect (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fetal abdominal wall defect	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Transposition of great arteries with concordant atrioventricular connections and ventricular septal defect (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Transposition of great arteries with concordant atrioventricular connections and ventricular septal defect and left ventricular outflow tract obstruction (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis Fallot type (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Corneal epithelial defect following penetrating keratoplasty	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bilateral full thickness hole of macula of eyes	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral full thickness hole of macula of eyes	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Residual ventricular septal defect following procedure	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Recurrent ventricular septal defect following procedure (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Onycho-tricho-dysplasia neutropenia syndrome (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Sabinas brittle hair syndrome (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondylolysis of thoracic vertebra (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rhegmatogenous retinal detachment with multiple breaks (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
New partial retinal detachment with multiple defects	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Repair of supracristal defect with tissue graft (procedure)	Direct morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Closure of defect of atrioventricular septum using tissue graft (procedure)	Direct morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Repair of ventricular septal defect with tissue graft	Direct morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Stafne idiopathic bone cavity of mandible	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Corneal epithelial defect	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Persistent corneal epithelial defect (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Reconstruction of cranial defect with free flap	Direct morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Reconstruction of defect of nasal sinus with local flap (procedure)	Direct morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Repair of defect of palate with skin flap	Direct morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Reconstruction of defect of nasal sinus with microvascular transferred flap	Direct morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Defect of nerve fiber layer of left retina (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Retinal nerve fiber bundle defect of right eye	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral defect of nerve fibre layer of retinas	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral defect of nerve fibre layer of retinas	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Robotic assisted closure of atrial septal defect	Direct morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acquired atrioventricular septal defect	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Retinal break with retinoschisis	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Multiple breaks of retina with schisis of retina (disorder)	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Spondylolytic spondylolisthesis	Associated morphology	False	Defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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Reference Sets

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Description inactivation indicator reference set

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POSSIBLY EQUIVALENT TO association reference set

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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