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
Bipartite ossification of interparietal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Complete absence of alimentary tract NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Epitheliogenesis imperfecta lingua bovis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of ear with impairment of hearing	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of parietal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Atretic right superior vena cava	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Congenital malformations of palate, not elsewhere classified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital thickening of femur	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of peritoneum (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Triple kidney with triple pelvis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lumbar myelocystocele	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of lip	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of zygomatic bone (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of nasal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of appendix	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Chromosomal alterations of group F	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Agenesis of brain, part unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormality of great veins and coronary sinus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Precocious exfoliation due to ectopic eruption of proximate tooth (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Incomplete ossification of palatine bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Aplasia of brain, part unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Macerated fetus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Radiation chimera	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Hereditary acantholytic dermatosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Monosomy 21, mosaicism	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Malaligned outlet septum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of maxilla	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hydrocephalus due to toxoplasmosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital absence of digestive system NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ichthyosis congenita NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Unspecified anomaly of tendon	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cervical spina bifida without hydrocephalus - closed	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Hereditary diffuse palmoplantar keratoderma (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Solitary arterial trunk	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital familial idiopathic priapism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Sacral spina bifida without hydrocephalus - closed	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Atresia of pulmonary artery with septal defect	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital phimosis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of perineum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Branchial cleft vestige, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of interparietal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital vaginal cyst NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformation syndromes with other skeletal changes	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Brachypellic pelvis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Colpocephaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of hair	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypertelorism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Other specified conditions due to autosomal anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some
medfödd missbildning i övre matspjälkningsorgan	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
persisterande fetal cirkulation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of zygomatic bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Unspecified congenital anomalies of skin	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of prostate	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Acrokeratosis verruciformis of Darier disease (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Skull congenital deformities	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital cerebral cyst NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Prader-Willi syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Abnormal coronary artery course	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of chromosome Y	Associated morphology	False	kongenital anomali	Inferred relationship	Some
medfödd anomali i bukväggen	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duplication of limb NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Microdysgenesis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Inherited cutis laxa (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of bile ducts	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of calcaneus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of congenital deformity of great vessels (procedure)	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of larynx	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital thickening of hindpaw phalanx	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of talus (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of mouth	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital pancreatic trypsin deficiency (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other deletion of part of a chromosome NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Xeroderma pigmentosum, group E	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomalies of the aorta excluding coarction	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cubitus NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödda störningar av hårmorfologi	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Townes-Brocks syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other correction of congenital deformity of foot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Cervical spina bifida with hydrocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
hyperplastisk kondrodystrofi	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
araknoidal eller ependymal cysta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital thoracostenosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Monosomy and deletion from autosome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of subcutaneous tissue	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital malformation of eye, ear and neck	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomalous muscle bands of right ventricle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Left dominant coronary system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Acephalogaster	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
sirenomyelisyndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Thyroglossal duct anomaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital prognathism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Other overgrowth of limb NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Non-neurologic xeroderma pigmentosum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other congenital anomaly of vulva	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital convoluted ureter	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Acyanotic congenital heart disease NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Right dominant coronary system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital CNS anomalies NOS	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)