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
frontoparietal kraniofacial synostos	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Craniometaphyseal dysplasia - severe type	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Overgrowth of upper limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Tetralogy of Fallot with pulmonary atresia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other specified congenital malformations of circulatory system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Radioulnar dysostosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified anomalies of adrenal gland	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomalies of adrenal gland NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified sex chromosome anomaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Coronary artery anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hepatic methionine adenosyltransferase deficiency	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dubin-Johnson syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of heart valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of parietal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
uterus bicornis som komplicerar postpartumvård, barnet framfött under tidigare vårdperiod	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Left atrial hypoplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cutis laxa, autosomal recessive	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of upper limb congenital ring constriction band	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Ichthyosis vulgaris	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
False tendon - heart	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Alacrima	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Reniform pelvis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pulmonary artery anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of talus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
7p partial trisomy (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Transverse arrest metacarpal first ray	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital urethral syringocele	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomalies of thoracic vertebrae NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital chromosomal disease	Associated morphology	False	kongenital anomali	Inferred relationship	Some
onormal implantation i uretär	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of ureter	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified anomalies of spleen	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of toe	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of premaxilla	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
13p partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Situs inversus viscerum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital nephrotic syndrome NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hypoplasia of claw	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital uterine anomaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Left sided atrium connecting to right ventricle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital prolapse of bladder mucosa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Atrioventricular septal defect: atrial and ventricular components	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Repair of congenital pseudoarthrosis of tibia	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of the urinary tract proper (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of skeletal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of brain	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital female urogenital anomaly (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hyperplasia of islet alpha cells with gastrin excess	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Amelogenesis imperfecta, hypocalcification type	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Amelogenesis imperfecta, hypoplastic type with microdontia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Amelogenesis imperfecta, pigmented hypomaturation type	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Amelogenesis imperfecta, hypomaturation type (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Amelogenesis imperfecta, hypoplastic type	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Enamel-renal syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Excision of anlage of tibia	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Unspecified anomaly of bladder	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anterior lentiglobus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Talipes calcaneus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Absence of vein NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Papuloverrucous palmoplantar keratoderma of Jakac-Wolf	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Common arterial trunk and separate origin of pulmonary arteries (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypoplasia of pulmonary valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Whole chromosome monosomy, mosaicism NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some
total transposition av stora blodkärl	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Complete trisomy 8 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Infantile uterus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida aperta of thoracic spine (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Microhepatia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other deletions of part of a chromosome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Absent blood vessel in umbilical cord	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Truncal valve stenosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of skull	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of penis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete formation of bony cochlea	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified anomalies of urachus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bronchopulmonary isomerism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödda förändringar i makula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
konstriktionsring på arm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Arteriohepatic dysplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
multipel medfödd ledstelhet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of cervix	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Absent eyebrow	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital folds or cysts of the posterior segment NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormal fusion of basisphenoid bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Acrosyndactyly of the fingers	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Segmental neurofibromatosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital musculoskeletal anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of pelvic bones	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of bronchus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hereditary neurocutaneous angiomata (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of interparietal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Doubling of uterus with doubling of cervix and vagina	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
korta revben-polydaktylisyndrom typ 1	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of arch of lumbar vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypoplasia of aorta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified anomalies of spinal cord	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of ossicles of ear	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Congenital malformation of breast, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormality of nose and nasopharynx	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
höger kammare utflödeskammare	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)