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
Camptodactyly-other or multiple	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
underväxt av tumme	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of endocrine gland	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lumbar spina bifida without hydrocephalus - closed (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital ectodermal defect	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of arch of thoracic vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of tongue, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Trisomy 9	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Other congenital skin anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida without hydrocephalus - closed	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Megacalycosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Eyelid, lacrimal system and orbit congenital anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Release of syndactyly of toes	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital heart disease in pregnancy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Situs inversus NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Dentinogenesis imperfecta - Shield's type II	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Right atrial appendage - left - juxtaposition	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other trisomy C syndromes	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital micrognathism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital nephrotic syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hypertrichosis lanuginosa (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cervical auricle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
XY females	Associated morphology	False	kongenital anomali	Inferred relationship	Some
komplett trisomi 10-syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Unspecified conditions due to autosomal anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital claw foot (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of congenital deformity of hand NOS	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital malformation of upper alimentary tract	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Circumflex runs posterior to aorta (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hypoplasia of supraoccipital bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Hereditary erythrokeratolysis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital atresia of osseous meatus of middle ear	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Rudimentary tracheal bronchus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Genitourinary anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ichthyosis congenita with biliary atresia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital pseudoporencephaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Rotated penis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Tilted optic disc	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Balanced autosomal rearrangement in abnormal individual	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital hypertrichosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Triploidy, diploidy, mixoploidy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital undergrowth of partial lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Chimera	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Duplication of whole limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital atresia of epiglottis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Other congenital anomaly of peripheral vascular system NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
intrauterin amputation av arm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Isolation of branch of aortic arch	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of duodenum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Atrioventricular septal defect - ventricular component under inferior bridging leaflet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
ögonlock med vaskulära anomalier	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of head	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Atresia of larynx or trachea NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Myotubular myopathy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of fibula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of fetal head bones	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ichthyosis bullosa of Siemens	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
3q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Male with structurally abnormal sex chromosome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Common arterial trunk and widely separate origin of pulmonary arteries (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified spina bifida without hydrocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Klinefelter's syndrome, XY/XXY mosaic	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Hypoplasia of right heart	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of retina	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Prognathism NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Intrinsic enamel discoloration of erythroblastosis fetalis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of vein NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Nevus comedonicus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Right ventricular outflow obstruction - localized	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other rib and sternum anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Transverse arrest metacarpal second to fifth rays (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lumbar spina bifida without mention of hydrocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anisocoria	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Adductor tenotomy for congenital dislocation of hip	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Hemifacial microsomia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Liver hyperplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of spinal cord (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Turco operation	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Other congenital anomalies of whole arm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Malformation of ear with impairment of hearing, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Trisomy of autosomes NEC NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Incomplete ossification of centrum of sacral vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital ectropion of lip	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Circumflex runs posterior to pulmonary trunk	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of basioccipital bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of cerebrum NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Osteopetrosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pulmonary valve anomaly, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Diffuse palmoplantar keratoderma of Thost-Unna (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Renal agenesis or dysgenesis NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of aorta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomalies of parathyroid gland NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Individual with marker heterochromatin	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Other specified reduction deformities of brain	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
litopedion	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of congenital deformity of hip	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of nail	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Interfrontal craniofaciosynostosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ring chromosome 9 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
frontoparietal kraniofacial synostos	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)