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
Infraorbital facial cleft - Tessier cleft 4 (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of the hematopoietic system	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other great vein anomalies	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Transposition of arterial trunk NEC	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Persistent vertical vein	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Orbital dystopia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Varix of umbilical vein (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital anomaly of the thyroid gland	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital deafness	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Uterine atresia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital floating liver (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital malposition of nasal turbinate	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital fusion of pulmonic cusps	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Anomaly of chromosome pair 14	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Papyraceous fetus unspecified	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other congenital anomaly forearm NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Colloid cyst of third ventricle	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital abnormality of Eustachian tube (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Myelodysplasia of spinal cord	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of esophagus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital abnormality of atrioventricular valves in atrioventricular septal defect (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Autosomal dominant ichthyosis vulgaris	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of tricuspid valve	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
[X]Unspecified spina bifida with hydrocephalus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Blue sclera (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Trisomy 7	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Unspecified anomaly of kidney	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other cardiovascular system anomaly NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital functional disorders of the colon	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of ulna	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Lethal glossopharyngeal defect	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 12	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital leg bone bowing	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Upper limb or shoulder anomaly NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Earpit syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
[X]Other specified congenital malformations of brain	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Polycoria	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Thoracic spina bifida with hydrocephalus - open	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
[X]Other specified congenital malformations of nervous system	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Vertical orbital dystopia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Anomaly of chromosome pair 9	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Congenital abnormality of lower limb and pelvic girdle	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other toe anomalies NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Pallister-Killian syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Congenital anomalies of foot NEC	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other specified brain anomalies NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Hitch-hiker thumb	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Skull, face or jaw congenital deformities NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Right ventricular outflow tract absent	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Correction of clinodactyly with osteotomy and bone graft	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Anomaly of chromosome X	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Dumbbell-shaped cartilaginous centrum of cervical vertebra	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords to papillary muscle on right ventricular side septum (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Constriction ring syndrome of upper limb	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of male genital system	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital malposition of hindpaw phalanx	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Anomaly of the vena cava, unspecified	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Goniodysgenesis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Epidermodysplasia verruciformis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital tracheobronchomegaly	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Agenesis of nerve NEC	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Realignment of congenital ulnar drift	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of carpal bone	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Right ventricular outflow tract atresia (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of salivary gland	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Sacral agenesis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
vasculaire anomalieën in posterieure segment	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Trisomy 8	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Urinary system anomalies NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Finnish congenital nephrotic syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital structural abnormality of orbit proper (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital miosis (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Pili annulati	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
XY, female phenotype	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Supraorbital facial cleft - Tessier cleft 10 (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Anomalies of foot NEC NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Shwachman syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
keratoma plantare sulcatum (aandoening)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Trisomy 6	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Common truncus arteriosus (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Tendon transfer and arthrodesis to correct claw toe	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Right ventricular outflow obstruction - tubular	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other specified spinal cord anomalies NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Pseudo-polycoria (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other specified transposition of great vessels	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
syndroom van volledige trisomie 14	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Congenital malformation of angle of anterior chamber of eye	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital iris ectropion (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Other gastrointestinal tract congenital anomaly	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of aortic valve	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 9	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Generalized congenital intestinal dysmotility (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Abdominal wall anomaly NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
[X]Other congenital malformations of pulmonary artery	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Spinal cord anomalies NOS	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Duplication of femur	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 11	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Duplication of whole lower limb	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Accessory pancreas	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Other specified spinal cord anomalies	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Humeroulnar synostosis	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)