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
Ebstein's anomaly with atrial septal defect	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital myopathy with uniform fiber type	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
kromosomer med extra markör	Associated morphology	False	kongenital anomali	Inferred relationship	Some
biliär missbildning i samband med renal tubulär insufficiens	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital mesocolic hernia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Laminar heterotopia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ichthyosis hystrix	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Thumb in palm deformity	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other congenital malformations of vulva	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Additional chromosome NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some
aplasi av lillhjärnan	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Epoophoron (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of lacrimal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Neonatal cutis laxa with marfanoid phenotype	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Port-wine stain associated with spinal dysraphism (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other nervous system congenital anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödd triggertumme	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hypomyelinating neuropathy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Chromosomal alterations of group A	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Anomaly of chromosome pair 11 (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
[X]Other congenital malformations of vagina	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Xeroderma pigmentosum, variant form	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other congenital anomalies of pelvis NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödd minskad tillväxt av fot	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
X-linked ichthyosis with steryl-sulfatase deficiency	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomalous portal vein termination	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital polyneuropathy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
18q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Myopathy with tubular aggregates	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
preaurikulär sinus, grop eller fistel	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cutis laxa, recessive, type II	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other lower limb anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lack of ossification of tarsal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Vesicular appendix of ovary	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Single outlet ventriculoarterial connection	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Chimera 46, XX; 46, XY (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Myelocystocele of unspecified site	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödd underutveckling av nedre extremitet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other specified sex chromosome abnormalities, female phenotype	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Deletion of chromosome NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some
D - transposition of the great vessels (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of lacrimal system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of ilium	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Webbed penis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other anomalies of larynx, trachea and bronchus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital absence of pancreas	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Other specified other correction of congenital deformity of foot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Floppy infant syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Autosomal deletion - mosaicism	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Dentin dysplasia, type II	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Atrioventricular septal defect - ventricular component	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of anterior chamber of eye	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ring chromosome 4 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Commissural fusion of pulmonary valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Diphallus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other lower limb and pelvic girdle anomaly NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Mosaicism NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Myopathy with cytoplasmic inclusions	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Double outlet from ventricle of indeterminate morphology	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Accessory adrenal cortex	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital vertical mandibular hypoplasia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Atrioventricular septal defect - ventricular component under superior bridging leaflet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other sex chromosome anomaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some
8p partial monosomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Other anomalies of larynx, trachea or bronchus NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
22q partial trisomy (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of paw	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Right sided atrium connecting to right ventricle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of larynx	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Neuronal heterotopia (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Imperforate hymen	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Whole chromosome monosomy - mitotic nondisjunction mosaicism (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Myopathy with abnormality of histochemical fibre type	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Abnormal plantar creases	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
synnervsgrop	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Acyanotic congenital heart disease	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other specified congenital musculoskeletal deformities	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Congenital malformations of the nervous system	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of parathyroid glands	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of superior vena cava	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of unspecified limb NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified anomalies of unspecified limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Absent left sided atrioventricular connection	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Tongue tie	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Oral lymphangioma	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Anomaly of chromosome pair 8	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Constriction ring syndrome of lower limb (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of vulva	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
anomalier i cerebrovaskulära systemet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
onormal infundibulär morfologi	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
imperforerad vagina	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Type 2 lissencephaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Obstructive heart anomaly NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Incomplete ossification of carpal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
myxomatos i hjärtklaff	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
[X]Other obstructive defects of renal pelvis and ureter	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other anomaly of trachea	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Anterior leaflet of mitral valve attached to septum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Inherited disorder of keratinisation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duane's syndrome, type 3	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1

Start Previous Page 92 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)