107656002: congenitale anomalie (afwijkende morfologie)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
congenitale anomalie (afwijkende morfologie)	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some
congenitale anomalie (afwijkende morfologie)	Is a	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Lung agenesis, hypoplasia and dysplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Inverted pelvis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Anomaly of chromosome pair 2	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
congenitale afwijking van atrium en atriumseptum van hart (aandoening)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
[X]Congenital malformation of circulatory system, unspecified	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Incontinentia pigmenti syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Trisomy X syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Sacral spina bifida with hydrocephalus - closed (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Pulmonary trunk atresia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital commissural pits	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Duane syndrome with vertical deviation (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Other specified ear anomalies NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Keratolysis exfoliativa	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of tongue	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Ring chromosome 18 syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Coronary sinus defect in left atrium	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Lack of ossification of alisphenoid bone	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital fecaliths causing obstruction (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other congenital anomaly of adrenal gland NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Midline cervical cleft (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital thickening of tarsal bone	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Spina bifida with hydrocephalus - closed NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Separation of tarsal coalition	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Hyperplastic tooth follicle	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
uterus bicornis - bevallen met postpartale complicatie	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital abnormality of liver and/or biliary tract (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
bilateraal atrium van hart	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
[X]Other specified congenital malformations of peripheral vascular system	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Atresia of urethra	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Cutis laxa, autosomal dominant (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital retrognathism	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital anomaly of thorax	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Anomalies of pancreas NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
[X]Other specified congenital malformations of respiratory system	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Thoracic spina bifida with hydrocephalus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital pulmonary venous atrium	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other specified congenital hydrocephalus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Gillespie syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Harlequin fetus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Whole chromosome monosomy - meiotic nondisjunction (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Congenital anomaly of cardiovascular structure of trunk	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital hydrocalicosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Uterus acollis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
12q partial trisomy syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Jaw congenital deformities	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Defect of skull ossification	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other specified brain anomalies	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Lumbar spina bifida with hydrocephalus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Pulmonary trunk hypoplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other congenital anomalies of fingers	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of epidermal appendages	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Thoracolumbar spina bifida with hydrocephalus - closed	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Dentate dysplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other endocrine gland anomalies	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Fissured spine with hydrocephalus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Congenital anomaly of myocardium	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other liver or biliary system anomalies NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital hypoplasia of epididymis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Olive dysplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital systemic venous atrium	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Splenoportal vascular anomaly	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Dysgenesis of the brainstem	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Prune belly syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Congenital abnormality of lacrimal drainage system (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Hypoplasia of nipple	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of endocrine testis (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Vascular neurocutaneous syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other specified digestive system anomalies	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Eustachian tube anomalies NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Embedded tooth	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Hypoplasia of lower limb	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Balanced coronary system (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
[X]Other specified congenital malformations of urinary system	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital ichthyosis, unspecified	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Hypoplasia of brain gyri	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital thickening of fibula	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Cranial dysostosis NEC	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Anomaly of parathyroid gland NEC NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
[X]Other congenital malformations of lung	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
[X]Congenital malformation of bony thorax, unspecified	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Klinefelter's syndrome XXXXY	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Other anomalies of uterus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital accessory skin tag	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Other undergrowth of limb	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Conditions due to anomaly of unspecified chromosome NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Posterior embryotoxon (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
[X]Other congenital malformations of tongue	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of mandible	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital leukonychia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other congenital heart anomalies	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital thickening of ilium	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Closed spina bifida with Arnold-Chiari malformation	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Duane's syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
syndroom van partiële monosomie 12p	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Glycogenosis with glucoaminophosphaturia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital postural curvature of spine NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Unspecified anomaly of cartilage	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Major partial trisomy	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Congenital anomaly of gastrointestinal tract	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Bipartite ossification of interparietal bone	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1

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Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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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
1190181000146119	aangeboren afwijking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1190191000146117	congenitale anomalie (afwijkende morfologie)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1829111000146118	congenitale anomalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)