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
Humeroulnar synostosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Transitional vertebra (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Amelogenesis imperfecta - hypoplastic autosomal dominant - rough	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Cervical aortic arch	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dumbbell-shaped cartilaginous centrum of sacral vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypoplasia of heart NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödda cystor i bakre ögonkammare	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other congenital digestive system anomaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lipomeningocele	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital crossed toes	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hemimyelia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of tongue, salivary gland AND/OR pharynx	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Unspecified anomaly of urethra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other and unspecified anomalies of eyelid, lacrimal system or orbit	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Constriction ring of upper limb with acrosyndactyly and amputation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital knee joint deformity NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Craniolacunia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Multiple benign annular creases of extremities	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete great vessel transposition	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Partial hypoplasia of optic disc (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
[X]Congenital malformations of eye, ear, face and neck	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other liver and biliary anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Paramedian facial cleft - Tessier cleft 3	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Male with sex chromosome mosaicism	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Unspecified spina bifida with hydrocephalus - open	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Female infertility due to structural congenital anomaly of vagina	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of vena cava	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital corneal malformations	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Encephalocele of orbit	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Midline facial cleft - Tessier cleft 30 (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Zebra body myopathy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Thoracic spina bifida without mention of hydrocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital sacrococcygeal anomalies NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Keratitis ichthyosis and deafness syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Low anorectal malformation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anterior segment anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
14q partial trisomy (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Pigmented xerodermoid	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Biliary anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Undergrowth of whole hand	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
XXXY syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
[X]Other congenital malformations of iris	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Sinus of Valsalva abnormality	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hydromyelia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Hirschsprungs sjukdom och besläktade medfödda tillstånd	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Autosomal dominant ichthyosis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Arrhythmogenic right ventricular dysplasia (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Café-au-lait macules with temporal dysrhythmia (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Xeroderma pigmentosum, group G	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital sacrococcygeal anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Irido-trabecular dysgenesis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dentinogenesis imperfecta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödd fissur i tungan	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomalies of posterior segment NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Unspecified liver and biliary system anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
karpalsynostos	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bile duct anomaly, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Right ventricular outflow tract abnormality	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida without hydrocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other upper limb and shoulder anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other anomaly of larynx	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Punctate palmoplantar keratoderma (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ichthyosis hystrix of Curth-Macklin	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Abnormal dermatoglyphic pattern (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Persisting fifth aortic arch	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital tracheocele	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital abnormal fusion of tympanic anulus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Overgrowth of whole upper limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Infraorbital facial cleft - Tessier cleft 6	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Fragile X syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of eyelid	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Infraorbital facial cleft - Tessier cleft 7	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pancreas divisum - incomplete (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of vagina	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Chromosomal alterations of group B	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Left ventricular outflow tract abnormality	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Microdontia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
bullös iktyos	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Sectorial hypoplasia of optic disc	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital ball and socket ankle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Paired teeth microdontia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Familial multiple café-au-lait macules without neurofibromatosis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Amyelia (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Primary endocardial fibroelastosis of left ventricle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
akrosyndaktyli i arm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital cleft larynx	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Sex chromosome abnormality, male phenotype, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Rotational orbital dystopia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Isologous chimera	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital overgrowth of distal lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Atelencephaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Persistent fetal uterus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Odontogenesis imperfecta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Optic disc vascular anomaly (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida aperta of lumbar spine (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Syringomyelia or syringobulbia NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hearing disorder	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Paramedian facial cleft - Tessier cleft 1	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of camptodactyly	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Genetic defect of hair shaft (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)