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
Anomaly of lung, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Enamel pearls	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pancreas divisum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Abnormal atrioventricular connection - biventricular	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of lower limb (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital hydrocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Lack of ossification of ulna	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital flaccid paralysis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Myelinated nerve fibers of optic disc	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Interrupted aortic arch	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cerebral cortical dysgenesis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Localized cortical dysplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dysplastic ovary	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of lacrimal gland	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Abnormal atrioventricular connection	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital subluxation of carpus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Spinal dysgenesis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Whole chromosome trisomy syndrome NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Secondary arthroplasty of hip for correction of congenital deformity	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital stenosis of superior vena cava	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
vänster kammare utflödeskammare	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of arch of thoracic vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital cerebral cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital arteriovenous malformation of gastrointestinal tract (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
4q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Atresia of lower vagina	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of palatine bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Encephalocystocele	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
18q partial monosomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Parieto-occipital craniosynostosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Truncal valve abnormality	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified heart anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital uraemia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
XXXXY syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Failure of soft tissue differentiation of lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Nemaline myopathy, late onset type	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other anomaly of skull or face bone NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Localised congenital skull defect	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of arch of sacral vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Primordial cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
[X]Other reduction deformities of brain	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Balanced rearrangement and structural marker, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other anomaly of bronchus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of lumbar vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
meromikrosomi	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Incomplete ossification of calcaneus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital overgrowth of proximal lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormality of arterial valves	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Nemaline myopathy, early onset type	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of nasal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Intrauterine amputation of lower limb (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypoplasia of eye muscle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Subaortic infundibulum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Nodular heterotopia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Sex phenotype-karyotype dissociation syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Lack of ossification of interparietal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Fragile X chromosome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Duplication of humerus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Truncal valve prolapse (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital conduction defect (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Trisomy and partial trisomy of autosome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Other specified correction of minor congenital deformity of foot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Absent right sided atrioventricular connection	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ear, face and neck congenital anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Buccal bifurcation cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other anomaly of larynx, trachea or bronchus NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormality of oral cavity	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ebstein-like downward displacement of mitral valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other rib or sternum anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Linear/nevoid/zosteriform Darier's disease (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Hypertrophic Darier's disease (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Chromosome inversion in normal individual	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Persistent primary vitreous	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of lens (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
partiellt trisomi 15q-syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital intrahepatic portal-systemic shunt	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Manus plana	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of the thymus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Type 1 lissencephaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Atresia of heart valve NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of clinodactyly	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of chromosome pair 3	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Microgenia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Bilateral muscular infundibula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital vitreous opacity	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of abdominal wall	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Multiple anterior segment anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of lung	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Optic disc structural anomaly (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of pulmonary artery	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified other anomalies of muscle, tendon and fascia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Straight back syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
True generalized microdontia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other pulmonary valve anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
21q partial trisomy (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of muscle AND/OR tendon	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other lung anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
21q partial monosomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
onormalt foster	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of diaphragm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Supernumerary heart valve cusps NEC	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)