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
Congenital anomaly of jaw	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
kongenital vesikoureteral reflux	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Atresia of pupil	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Duplication seen only at prometaphase	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Pharyngeal pituitary tissue	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Benign congenital hypotonia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
ofullständig benbildning i centrum i svanskota	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified stomach anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
dominant kongenital iktyosiform erytrodermi	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödda anomalier hos foster	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Peripheral vascular system anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
duplexuretär, struktur	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of chromosome pair 16	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of trunk	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bifid patella	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of renal pelvis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
missbildat foster med sirenomyeli	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of membranous labyrinth	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of chromosome pair 19	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Uterus bicornuatus vetularum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pancreatic colipase deficiency	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
hydromeningomyelocele	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Modified Johanson operation for claw toe with arthrodesis	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of inner ear	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of digestive system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Primary endocardial fibroelastosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of female genital system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pseudocoarctation of aorta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital cardiospasm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
2q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
tillväxthämmat embryo	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of stomach	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
10q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Acrocephaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Darier disease	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital stenosis of inferior vena cava	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of pituitary gland	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
XX males	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Female pseudohermaphroditism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of nervous system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Double Y syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
6q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Oculopharyngeal muscular dystrophy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital skin fragility of animals	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital depression in skull	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hyperplasia of intrahepatic bile duct	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Cutaneous lesion resulting from spina bifida (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Acral Darier's disease (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
keratodermi med dövhet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of macula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Klinefelter's syndrome, XXY (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
pseudokryptorkism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ectopic gastric mucosa - multiple sites (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödda labiala adherenser	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
///veterinärterm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Axenfeld-Rieger syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cochleate uterus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida aperta of cervical spine (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Correction of congenital deformity of hip NOS	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Release of pantalar joints for correction congenital deformity of foot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Wedge tarsectomy for correction congenital deformity of foot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Robinson nail dystrophy-deafness syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormality of uterus complicating antenatal care, baby not yet delivered	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Rieger eye malformation sequence	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida without hydrocephalus - open	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Megalocornea	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
specificerade anomalier i synnervspapill	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Great vessel transposition NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Fusion of heart valve cusps NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other anomalies of aorta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other peripheral vascular system anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital urethral valvular stricture	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital torticollis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Transverse deficiency of hand	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duplication of lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Gastrointestinal tract congenital anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital gingival granular cell tumor	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital urinary meatus obstruction (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Venous remnant	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ring chromosome 21 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital posterior urethral valves	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Corneal size or shape anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital thickening of ischium	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other specified congenital malformations of eye	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormality of uterus - baby delivered	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cervical, vaginal and external female genital anomalies, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Corneal size and shape anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of frontal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duplication of external genitalia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Disorder of neuronal migration and differentiation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other anomaly of lip NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Primary correction of congenital deformity of foot NOS	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
tidig sekundär missbildning i centrala nervsystemet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Excision of limbus for congenital dislocation of the hip	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Shelf procedure for congenital dislocation of the hip	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Congenital malformations and deformations of the musculoskeletal system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other congenital anomalies of wrist	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified spina bifida with hydrocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
ansiktsspalt	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital myopathy with fibre type disproportion	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1

Start Previous Page 111 of 124 Next End

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

Back to Start

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)