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
13q partial monosomy syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Shwachman syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Turner syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital abnormality of thoracic aorta and pulmonary arteries	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital cyst of mediastinum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital hypoplasia of pancreas	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Bonnevie-Ullrich syndrome NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of peripheral nerve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Aortic tunnel	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other intestine anomalies NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cryptotia (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pelvic osteotomy for congenital deformity of hip	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Shelf procedure for congenital dislocation of the hip	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
medullär cystnjursjukdom, specificerat på annat sätt	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Down's syndrome NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Femoral osteotomy for correction of congenital deformity of hip	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of congenital deformity of lower limb (procedure)	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Edward's syndrome NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Excision of anlage of fibula	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Patau's syndrome NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Turner's phenotype - ring chromosome karyotype	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Excision of anlage of tibia	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Aganglionosis of Auerbach's plexus (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Renal pelvis and ureter obstructive defects (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Prominent valve of inferior vena cava	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other pharynx anomalies	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified anomalies of diaphragm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Preauricular fistula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Fibrolipoma of filum terminale	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Discordant ventriculoarterial connection (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other anomalies of intestine	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Talipes calcaneovarus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Trisomy 13, meiotic nondisjunction	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Pancreas divisum - complete (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Trisomy 18 - meiotic nondisjunction	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Hypoplasia of cardiac vein	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Trisomy 21- meiotic nondisjunction	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Correction of congenital deformity of hip NOS	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Anomalies of pancreas NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Other specified anomalies of pancreas	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Aortic root congenital abnormality	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
10p partial monosomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Trisomy 18 - mitotic nondisjunction mosaicism	Associated morphology	False	kongenital anomali	Inferred relationship	Some
8q partial monosomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Persistent cerebral embryonic artery	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of aortic arch	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ash leaf spot, tuberous sclerosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital anomaly of fallopian tubes	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital vascular disorder (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Turner's phenotype, other variant karyotypes	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Cobb's syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital anomaly of skeletal muscle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pleuropericardial cyst	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Cervical thymic remnant	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Kommerell's diverticulum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bregeat's syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital pancreatic trypsin deficiency (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Complete trisomy 18 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
café-au-lait-fläckar och ringkromosom 11	Associated morphology	False	kongenital anomali	Inferred relationship	Some
primär seborré	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dextraposition of aorta in Fallot's tetralogy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Anomalies of upper alimentary tract NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
partiellt monosomi 9p-syndrom	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Triple pelvic osteotomy for congenital dislocation of the hip	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified correction of congenital deformity of hip	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
lokaliserad atrofi av bukväggshud	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Spinal dysgenesis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
1q partial monosomy	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Pancreas divisum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Pulmonary artery anomaly, unspecified	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital hereditary endothelial dystrophy (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Congenital anomaly of blood vessel of upper limb (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Exstrophy of cloaca sequence (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Correction of congenital deformity of hip	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
13q partial trisomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Mosaicism 45, X; 46, XX	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Double outlet left ventricle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Other specified upper alimentary tract anomaly	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Pancreas divisum - incomplete (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ovarian dwarfism NEC	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Dextrotransposition of aorta (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Ring chromosome 11 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Complete trisomy 21 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
preaurikulär sinus och fistel	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
11q partial monosomy syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Obstructive defect of renal pelvis or ureter NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ring chromosome 1 syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Turner's syndrome NOS	Associated morphology	False	kongenital anomali	Inferred relationship	Some
10q partial monosomy (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Trisomy 13 - mitotic nondisjunction mosaicism (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Unspecified anomaly of heart valve	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital malformation of pancreas	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Trisomy 21- mitotic nondisjunction mosaicism	Associated morphology	False	kongenital anomali	Inferred relationship	Some
bristande utveckling av cauda equina	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
preaurikulär sinus, grop eller fistel	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Proximal femoral osteotomy for correction of congenital dislocation of the hip	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Cyclops hypognathus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Epstein's pearl of palate (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
preaurikulär sinus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Opocephalus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Leydig cell agenesis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2

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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)