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
Cerebrovascular system anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Foramen ovale valvar aneurysm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Uterus bicameratus vetularum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
missbildningar i storhjärnan	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Harlequin ichthyosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
underväxt av hel arm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Talipes, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Midline deviation of dental arch	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of finger	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Klinefelter's syndrome, XXYY (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
High assimilation pelvis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lumbosacral prespondylolisthesis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Fetal aminopterin syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
2p partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of uvula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormality of uterus affecting obstetric care	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of posterior segment of eye	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
///veterinärterm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Anomalies of spine NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
balanserad autosomal translokation	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Spina bifida	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Complete trisomy 9 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital spine deformity NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Specified anomaly of sclera NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida without mention of hydrocephalus, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of lumbar vertebra NEC NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Erythrokeratoderma progressiva of Gottron	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Progressive palmoplantar keratoderma of Greither	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida with hydrocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Ectopic bone and cartilage in lung	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other specified congenital malformations of upper alimentary tract	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormality of vein	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Structural anomaly of the cochlea and vestibular labyrinth	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other mis-shapen ear	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypoplasia of radius	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Balanced translocation and insertion in normal individual	Associated morphology	False	kongenital anomali	Inferred relationship	Some
blandad medfödd myopati	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Caudal regression syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Other specified whole chromosome trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of neck NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormality of uterus complicating postpartum care - baby delivered during previous episode of care (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Transverse arrest metacarpal other	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bipartite ossification of centrum of thoracic vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Monosomies and deletions from the autosomes NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital chest wall deformity NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of congenital deformity of leg	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Situs inversus, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
medfödd förskjutning av njure	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Unspecified spina bifida without mention of hydrocephalus NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bilateral isomeric atria	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cervical spina bifida without mention of hydrocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomalous cardiac muscle bands	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of gallbladder	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Balanced rearrangement and structural marker (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of the peripheral nervous system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Impervious ureter	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Repair of interrupted aortic arch (procedure)	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormality of skull and face bones	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other congenital retinal changes	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Small left colon syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of neck	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Situs inversus with levocardia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Primary correction of clubfoot (procedure)	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Hirschsprung's disease and allied congenital conditions NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of vas deferens	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of pulmonary veins	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
underväxt av arm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cebocephaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Misplaced ear	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Aprosencephaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Heyman operation (procedure)	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Bicornuate uterus in pregnancy, childbirth or puerperium NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida with hydrocephalus NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Septoparietal trabeculations	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of great veins	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Transverse arrest carpal level (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital dysmotility of small intestine (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Complete trisomy 16 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Imperforate lacrimal punctum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other specified congenital malformations of ear	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of musculoskeletal system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Albinotic fundus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital abnormality of ductus arteriosus (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other condition due to autosomal anomaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of middle ear	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of carpal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other mouth anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Endocardial fibroelastosis of right atrium	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida with hydrocephalus - open NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Mosaicism - lines with various numbers of X chromosomes	Associated morphology	False	kongenital anomali	Inferred relationship	Some
sekundär längdförlust hos tandbåge	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of basisphenoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Longitudinal deficiency of upper limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of calcaneus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of back	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
18p partial monosomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Right atrial appendage absent	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Unspecified spina bifida with hydrocephalus - closed	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Anterolateral muscle band	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Craniometaphyseal dysplasia - mild type	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)