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
Genetic defect of hair shaft (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Tetralogy of Fallot	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cyanotic congenital heart disease NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified cerebrovascular anomaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Idiopathic congenital megacolon	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Total colonic aganglionosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormal fusion of supraoccipital bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Dilatation of tricuspid annulus (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Reconstruction of toe for macrodactyly with bone resection	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Correction of congenital deformity	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital overgrowth of partial lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Overgrowth of partial upper limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Reduction deformities of brain NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Zachary operation for obstetric palsy (procedure)	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Congenital malformations of the circulatory system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other operations for clubfoot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
14q partial distal trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Unspecified congenital anomalies of hair	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital blind loop syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 8	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
gälspringa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dumbbell ossification of centrum of thoracic vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Esophageal atresia, stenosis or fistula NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of cardiac chambers and connections	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital posterior polar cataract	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Spina bifida with hydrocephalus, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Retrosternal thyroid gland	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Posteromedial muscle band	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of radius	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pentalogy of Fallot (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Dwarf pelvis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
syndrom med ofullständig embryonal klyvning av främre ögonkammare	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Specified breast anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Midline facial cleft - Tessier cleft 14	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomaly of chromosome pair 15	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Other upper limb and shoulder anomaly OS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of clinodactyly with reversed wedge osteotomy	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Infantile malignant osteopetrosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
FRAXE	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Assimilation pelvis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Enamel spur	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Crouzon syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
XXYY syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of digestive organ	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Supramitral left atrial ring	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
rudimentär patella	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Coffin-Lowry syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Agenesis of nerve, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Severe ichthyoses	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
unilateral höfledsinstabilitet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of clinodactyly with closing wedge osteotomy	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Mandibular retrognathism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Reduction of gigantism of hand	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital abnormality of nipple	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other specified congenital malformations of spinal cord	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital retinal fold	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Left ventricular hypoplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
L'Episcopo operation for obstetric palsy (procedure)	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
4q partial monosomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Left atrial appendage absent	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Polyploidy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Complete situs inversus with dextrocardia (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Other specified stomach anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
21q partial distal trisomy (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Ear auricle and external auditory canal absent	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Complete trisomy 22 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Poly Y syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Reticulate pigmented anomaly of flexures	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bifid scrotum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ulegyria	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
gallblåseanomalier	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital redundant colon	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
reduktionsdeformiteter i hjärnan	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Retrognathism NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital heart disease, septal and bulbar anomalies (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
underväxt av del av arm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dumbbell ossification of centrum of sacral vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Specified optic disc anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hypoplasia of pancreas	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Paravaginal cyst arising in mesonephric duct	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital brain damage	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital malposition of forepaw phalanx	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Atypical ichthyosis vulgaris with hypogonadism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital cystic bronchiectasis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified congenital eyelid anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Gingival cyst of neonate (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Paramedian facial cleft - Tessier cleft 2	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified anterior segment anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dumbbell-shaped cartilaginous centrum of thoracic vertebra	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital eyelid deformity NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Gallbladder anomaly, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Branchial cleft anomaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of aortic arch AND/OR descending aorta (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified congenital eyelid anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of coronary artery	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Osteotomy of body of os calcis for correction congenital deformity of foot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
[X]Other branchial cleft malformations	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital epiblepharon-inferior oblique syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital bowing of tibia, fibula and femur	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ebstein's anomaly	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)