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
Coronary orifice asymmetrical	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of supraoccipital bone (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Paroophoron	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital horizontal mandibular hypoplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Laryngeal cleft type I	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
cylindriskt embryo	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital ectropion	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Agenesis of larynx, trachea or bronchus NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
oklassificerad osteopetros	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
pulmonalklaffdysplasi	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Windblown hand (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other pulmonary valve anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cortical dysplasia with hemimegalencephaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other congenital anomalies of pelvis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other specified chromosome abnormalities	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other congenital anomalies of peripheral veins	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of lacrimal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Sex chromosome mosaicism NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Erythrokeratoderma	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Short rib-polydactyly syndrome, Majewski type	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Unspecified spina bifida without hydrocephalus - open	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of tibia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of the kidney	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hypoplasia of nasal turbinate	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Klinefelter syndrome, male with 46,XX karyotype (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Incomplete ossification of mandible	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödda klubbfingrar	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other specified sex chromosome abnormalities, male phenotype	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Myelocystocele NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypoplastic chondrodystrophy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital stenosis of vena cava	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Ectopic gastric mucosa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Fetal trimethadione syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of talus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital cerebral meningocele	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Sex chromosome anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of nose	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other deletions from the autosomes	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hereditary follicular keratoses	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Dyke-Davidoff-Masson syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Rudimentary digit (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other sex chromosome abnormality NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Persistent hyaloid artery	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
5p partial monosomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Atrioventricular septal defect - isolated ventricular component	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Beaded hair	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Alstrom syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Obstructive heart anomaly NEC NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Interparietal craniosynostosis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of ischium	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Schizencephaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital overgrowth of whole lower limb (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of congenital deformity of midfoot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of minor congenital deformity of foot NOS	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Multiple congenital cerebral cysts	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Truncal valve regurgitation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other anomaly of unspecified limb NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital stenosis of larynx or trachea NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Subpulmonary infundibulum (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other congenital musculoskeletal anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital fold and cyst of posterior segment of eye (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Discordant atrioventricular connection	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
spinobulbär atrofi	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Aortic arch anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of centrum of thoracic vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Partial absence of alimentary tract NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of basisphenoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of bladder and urethra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Solid rudimentary uterus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomalies of thyroglossal duct NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypospadias or epispadias NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Non-fluoride enamel opacities	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
anomali i mellanöra förutom hörselben	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Acrania	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of ilium	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Group chromosomal alteration	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of upper respiratory system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Isolation of brachiocephalic trunk	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormality of uterus, affecting pregnancy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of face (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of digestive tract	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Deventer's pelvis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified circulatory system anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
46,XX äkta hermafrodit	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Capitate-hamate synostosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital rhabdomyoma of heart	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Late congenital syphilitic polyneuropathy (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypoplasia of vagina	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of eyelid	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital heart block	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital buried penis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
artresi av bengång i öra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anosmia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Abnormal lung lobation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cervical spina bifida with hydrocephalus - open	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Dentin dysplasia, type I	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of tarsal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified digestive system anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
konstriktionsring på ben	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ebstein's anomaly with atrial septal defect	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2

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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)