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
Duane's syndrome, type 3	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
trunkalklaffdysplasi	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödd underutveckling av hela nedre extremitet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Left sided atrium connecting to left ventricle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other balanced rearrangements and structural markers	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Myopathy with type I hypotrophy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Fused mitral papillary muscles	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duct of epoophoron	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Accessory tissue on truncal valve cusp	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Single umbilical artery	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Distal interphalangeal joint symphalangism (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Double inlet to ventricle of indeterminate morphology	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other atresia and stenosis of urethra and bladder neck	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Absent atrioventricular connection with straddling valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of nasal turbinate	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
20q partial trisomy (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Nagele's pelvis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified primary correction of congenital deformity of foot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital curly toes	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Precocious exfoliation of teeth due to root resorption following trauma (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Duplication of digestive system NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other specified congenital malformations of kidney	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Primary vesicoureteric reflux	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spinal cord hypoplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of azygos vein	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duplication with other complex rearrangement	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Duodenal web	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Female infertility due to structural congenital anomaly of cervix	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Laryngeal cleft type IV	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of centrum of lumbar vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Translocation Down syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Anomaly of thyroid gland NEC NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Laryngeal cleft type II (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Beaked pelvis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Brockman operation	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Mottled tooth NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of femur	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Minor partial trisomy	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Generalized macrodontia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Constriction ring of lower limb with lymphedema	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of hyoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Localized congenital cutis laxa (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida of cervical region	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Absence of digestive system NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Straddling mitral valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital disorder of gallbladder and biliary tract	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
L - transposition of the great vessels (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Anomalies of thyroid gland NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Macrodontia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Laryngeal cleft type III	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Mottling of enamel	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödda veck i bakre ögonkammare	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
4p partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Nasal glial heterotopia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Other specified heart anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital overgrowth of foot	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bicornuate uterus affecting obstetric care	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other upper limb and shoulder anomaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital amputation of unspecified limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital deformities of skull, face and jaw	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hyperplasia of islet alpha cells with glucagon excess	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital deformity of knee joint	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lissencephaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of congenital deformity of forefoot (procedure)	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Precocious exfoliation of teeth due to idiopathic root resorption (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Infantile pelvis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified respiratory system anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Chromosomal anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of cornea	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ullrich-Feichtigers syndrom, chimär	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Partial trisomy syndrome NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of exoccipital bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of aorta, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida without hydrocephalus - open NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Respiratory system anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Single congenital cerebral cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
benign autosomalt dominant osteopetros	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Malformation of urachus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Upper limb anomaly, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of cervical vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of obstetric palsy	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of cardiovascular system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital splenorenal shunt (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Skull or face bone anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Trisomies of autosomes NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital extrahepatic portal-systemic shunt	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomalies of great veins	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Deep vein aplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Atresia of larynx and trachea	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Partial tetrasomy of chromosome 9 (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Klinefelter's syndrome NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some
dysgenesi av corpus callosum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
22q partial monosomy (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
uterus bicornis, barnet framfött	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital synostosis of lower limb bones (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
individ med autosomal fragile site	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Other specified respiratory system anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other anomaly of spine	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ulnar dimelia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Anomaly of lung, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1

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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)