112635002: Congenital malformation (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

183283010 Congenital malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

642068012 Congenital malformation (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

130541000052114 medfödd missbildning 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
medfödd missbildning	Is a	kongenital anomali	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Lethal Kniest-like syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Congenital malposition of the thyroid gland	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Congenital protrusion of tongue	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Retroesophageal carotid artery	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Rolland-Debuqois syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Congenital arteriovenous malformation of gastrointestinal tract (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Arteriovenous malformation of kidney	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Retinal arteriovenous malformation	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	3
medfödd arteriovenös missbildning av näthinna	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Pentalogy of Fallot (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	6
Hemicardia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
frånvaro eller hypoplasi av umbilikalartär	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Arteriovenous malformation of precerebral vessels	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Fetal alcohol syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Fetal or neonatal effect of maternal use of alcohol	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
medfödda missbildningssyndrom som påverkar ansiktets utseende	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Congenital malformation syndromes associated with short stature	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
medfödda missbildningssyndrom som omfattar extremiteter	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Aglossia-adactyly syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
medfödda missbildningssyndrom med störd metabolism	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Biemond's syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Ullrich-Feichtigers syndrom, chimär	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
acefalotorax	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Congenital arteriovenous fistula of brain	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
sirenomyelisyndrom	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Dextraposition of aorta in Fallot's tetralogy	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	6
Ventricular septal defect in Fallot's tetralogy	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	7
atelosteogenes eller diastrofisk dysplasi	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Kniest-Stickler dysplasia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
medfött missbildningssyndrom orsakat av känd exogen faktor	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Arteriovenous malformation of skin	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Congenital peripheral aneurysm	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
foster eller nyfödd som påverkats av alkohol som överförts via placenta eller bröst	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Congenital malformation of the respiratory system (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Peripheral arteriovenous malformation	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Tetralogy of Fallot NOS	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	6
Anomaly of artery NEC	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Atresia of artery NEC	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital brain aneurysm NEC	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital aneurysm NEC	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Arthrogryposis, unspecified	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Other arthrogryposis syndromes	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Multiple epiphyseal dysplasia NOS	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Congenital malformation syndrome affecting facial appearance NOS	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital malformation syndrome associated with short stature NOS	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Congenital malformation syndrome involving limbs NOS	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital malformation syndromes with other skeletal changes	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital malformation syndrome with other skeletal changes NOS	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital malformation syndrome with metabolic disturbance NOS	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
[X]Other congenital malformations of renal artery	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
[X]Other congenital malformations	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
[X]Other congenital malformation syndromes due to known exogenous causes	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
[X]Other congenital malformation syndromes with other skeletal changes	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
[X]Other specified congenital malformation syndromes, not elsewhere classified	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
[X]Other specified congenital malformations	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Tetralogy of Fallot, unspecified	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	6
Congenital arthrogryposis due to teratogen	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Thanatophoric dysplasia, type 1 (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Thanatophoric dysplasia, type 2 (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Spondyloepiphyseal dysplasia with joint laxity (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Trichorhinophalangeal dysplasia type III (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Precocious osteodysplasty (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Yunis-Varon dysplasia (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Neonatal osteosclerotic dysplasia (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Blomstrand dysplasia (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Raine dysplasia (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Bovine achondroplasia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Tetralogy of Fallot with absent pulmonary valve (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	6
Congenital malformation syndrome (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Pena-Shokeir syndrome type I (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Smith-Magenis syndrome (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Fordyce spots of buccal mucosa (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital lower lip pits (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Hereditary mucoepithelial dysplasia (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Cardio-acral-facial syndrome (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Cardio-facio-cutaneous syndrome (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
bitemporala ärr med onormala ögonfransar	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Cleft palate lateral synechia syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Facial milia, lobate tongue, lingual and labial frenula syndrome (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Congenital absence of salivary gland	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Accessory salivary gland	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Congenital enlargement of nasopharynx	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Accessory salivary gland or duct	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Congenital salivary gland fistula	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Accessory salivary duct	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Congenital anomaly of uvula	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Rathke's pouch cyst	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	3
Displacement of Wharton's duct	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	3
Congenital fistula of salivary gland	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	3
Cephalodiprosopus	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Isologous chimera	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Derencephalus	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Heterodymus	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Thoracodidymus	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Cebocephalus	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
foster med avsaknad av öppningar i kraniet	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Omocephalus	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
polysomatöst missbildat foster	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Deradelphus	Associated morphology	False	medfödd missbildning	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
183283010	Congenital malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
642068012	Congenital malformation (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
130541000052114	medfödd missbildning	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)