107656002: Congenital anomaly (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

172092016 Congenital anomaly en Synonym Active Entire term case insensitive SNOMED CT core module

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly	Is a	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier
Congenital anomaly	Is a	Developmental anomaly	false	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pentalogy of Fallot	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Dextraposition of aorta in Fallot's tetralogy	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Tetralogy of Fallot NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Tetralogy of Fallot, unspecified	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Tetralogy of Fallot with absent pulmonary valve	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Conjunctivitis associated with epidermolysis bullosa	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital hereditary endothelial dystrophy	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital hereditary endothelial dystrophy type 1	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital hereditary endothelial dystrophy type 2	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Axenfeld-Rieger syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Supernumerary canaliculus	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Angelman syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Angelman syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Spina bifida with hydrocephalus of late onset	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	4
Spina bifida with hydrocephalus of late onset	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	5
Sturge-Weber syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Sturge-Weber syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Axenfeld anomaly	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Axenfeld anomaly	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Axenfeld anomaly	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Levoatrial cardinal vein	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Levoatrial cardinal vein	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Micropapilla	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Micropapilla	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Specified optic disc anomaly NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Specified optic disc anomaly NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital epicardial cyst	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital epicardial cyst	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital fissure of epiglottis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Congenital fissure of epiglottis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital uterovesical fistula	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital uterovesical fistula	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Female epispadias	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Female epispadias	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Abnormal palmar creases	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Abnormal palmar creases	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Pachydermoperiostosis of nail	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Pachydermoperiostosis of nail	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Anterior perimaxillary faciosynostosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Anterior perimaxillary faciosynostosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Complete perimaxillary faciosynostosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Complete perimaxillary faciosynostosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Posterior perimaxillary faciosynostosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Posterior perimaxillary faciosynostosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Spheno-fronto-parietal craniofaciosynostosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Spheno-fronto-parietal craniofaciosynostosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Pulmonary tuberous sclerosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Pulmonary tuberous sclerosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital anomaly of bone and joint	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of bone and joint	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Keratosis pilaris with ichthyosis and deafness	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Keratosis pilaris with ichthyosis and deafness	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	4
Correction of congenital hallux valgus	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Correction of congenital hallux valgus	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Walker-Warburg congenital muscular dystrophy	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Walker-Warburg congenital muscular dystrophy	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Dickson-Diveley operation	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Dickson-Diveley operation	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Tendon transfer and arthrodesis to correct claw toe	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	4
Tendon transfer and arthrodesis to correct claw toe	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Congenital tracheoesophageal cleft	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital tracheoesophageal cleft	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Undergrowth of the thumb	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Undergrowth of the thumb	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital sacrococcygeal anomaly	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital sacrococcygeal anomaly	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital sacrococcygeal anomaly	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Neurofibromatosis type 3	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Neurofibromatosis type 3	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Ash leaf spot, tuberous sclerosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Ash leaf spot, tuberous sclerosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Shagreen patch	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Shagreen patch	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Correction of curly fifth toe	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Correction of curly fifth toe	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Unilateral undescended testis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Unilateral undescended testis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Undescended testes - bilateral	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Undescended testes - bilateral	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Rudimentary uterus in male	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Rudimentary uterus in male	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Facial asymmetry	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Facial asymmetry	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Neurofibromatosis syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Neurofibromatosis syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Fibrous skin tumor of tuberous sclerosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Fibrous skin tumor of tuberous sclerosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Modified Johanson operation for claw toe with arthrodesis	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Modified Johanson operation for claw toe with arthrodesis	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Von Hippel-Lindau syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Von Hippel-Lindau syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Peutz-Jeghers polyps of small bowel	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Peutz-Jeghers polyps of small bowel	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Peutz-Jeghers syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Peutz-Jeghers syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Repair of claw toe	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Repair of claw toe	Direct morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Tuberous sclerosis syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Tuberous sclerosis syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1

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Id	Description	Lang	Type	Status	Case?	Module
172092016	Congenital anomaly	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module