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
Other tongue anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Deletion with complex rearrangement (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Autosomal recessive familial woolly hair	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Complete monosomy 21 (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of large intestine	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of congenital deformity of hand	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital portal-systemic shunt	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lithopedion	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Rud's syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of congenital hallux varus	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypoplasia of eyelid	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of the bladder	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of chromosome pair 10	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Ankyloblepharon filiforme adnatum (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
6p partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Carpenters syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of sternocleidomastoid muscle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida without hydrocephalus - closed NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
ofullständig benbildning i svanskotbåge	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of mirror hand	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital duodenal obstruction due to annular pancreas	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
partiellt monosomi 15q-syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some
fetus papyraceus, framfött	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dental midlines coincident and incorrect	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dentin dysplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Lack of ossification of forepaw phalanx	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Defect of vertebral segmentation (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ichthyosiform erythroderma	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
kongenital anomali i artär	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Focal nodular hypoplasia of liver	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Circumscribed palmoplantar keratoderma	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital bronchiectasis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
[X]Other congenital malformations of cardiac septa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Sotos' syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of iris	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Right hypoplastic heart syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Abnormal left ventricular muscle band	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormality of skull shape	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Chromosomal alterations of group D	Associated morphology	False	kongenital anomali	Inferred relationship	Some
medfödd postural krökning av kotpelaren	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other anomalies of lip	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Left ventricular outflow tract atresia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified ureter anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Atresia of vein NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anorectal anomaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Fetal postural deformity	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified congenital anomaly of lacrimal passages	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital alveolar hypoplasia of mandible (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
[X]Other congenital malformations of great arteries	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
ichthyosis hystrix gravior (Rheydt)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
sena sekundära abnormiteter i centrala nervsystemet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Mesenteric cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Cat eye syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Papyraceous fetus NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Chromosomal alterations of group C and X	Associated morphology	False	kongenital anomali	Inferred relationship	Some
[X]Other specified congenital malformations of the heart	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital extension contracture of the knee	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Multiple supernumerary eye muscles	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Horizontal orbital dystopia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Muscle eye brain disease	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfött totalt hjärtblock	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Left ventricular outflow tract obstruction (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
encefalooftalmisk dysplasi	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hemimyelocele	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödd extern anomali i kvinnliga könsorgan	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Absent tricuspid leaflet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified ureter anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified muscle, tendon and fascia anomaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of optic disc	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
ichthyosis hystrix med dövhet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Straddling tricuspid valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of arch of cervical vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cordate pelvis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital insufficiency of heart valve NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
X-bunden recessiv iktyos	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
///veterinärterm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of nasal sinuses	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Localised bullous ichthyosiform erythroderma	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital malformation of thumb (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified anomaly of abdominal wall	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Nemaline myopathy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ebstein-like malformation of mitral valve (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of aorta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bilateral craniofacial microsomia (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
ektopisk sköldkörtelvävnad	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Absence or hypoplasia of the umbilical artery NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Repair of cleft hand (procedure)	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital eye anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Autosomal recessive ichthyosis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital articular rigidity with myopathy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
11q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Other specified dwarfing syndromes	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of lacrimal apparatus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
neuroenterisk cysta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ductus arteriosus from retro-oesophageal aortic diverticulum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Branchial cleft sinus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 13	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ichthyosis hystrix Bäfverstedt type (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of chromosome pair	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Morning glory disc	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Infraorbital facial cleft - Tessier cleft 4 (disorder)	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)