112635002: Congenital malformation (morphologic abnormality)

Status: retired, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

183283010 Congenital malformation en Synonym Active Case insensitive SNOMED CT core

642068012 Congenital malformation (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital malformation	Is a	Congenital anomaly	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pena-Shokeir phenotype	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Marshall-Smith syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Jugular lymphatic obstruction sequence	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Tongue absent	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Endemic cretinism	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Sotos' syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Johanson-Blizzard syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Septo-optic dysplasia sequence	Associated morphology	False	Congenital malformation	Inferred relationship	Some	3
Robinow syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Angelman syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Amyoplasia congenita disruptive sequence	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Grebe syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Multiple malformation syndrome, moderate short stature, facial	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Neu-Laxova syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Tuberculum paramolare	Associated morphology	False	Congenital malformation	Inferred relationship	Some	4
Stickler syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Hallermann-Streiff syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Lowe syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Wildervanck syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Blepharophimosis syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Aplasia of cementum	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Marinesco-Sjögren syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Escobar syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Mulibrey nanism syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Opitz-Frias syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Treacher Collins syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Multiple system malformation syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Dyggve-Melchior-Clausen syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Kenny syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Caudal dysplasia sequence	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Shprintzen syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Amniotic band syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Arteriovenous malformation of liver	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Bifid tongue	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Sporadic cretinism	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Radial aplasia-thrombocytopenia syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Immotile cilia syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Tetralogy of Fallot	Associated morphology	False	Congenital malformation	Inferred relationship	Some	5
Schwartz syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Distichiasis-lymphoedema syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Hutchinson's teeth	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Frontonasal dysplasia sequence	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Bird tongue	Associated morphology	False	Congenital malformation	Inferred relationship	Some	3
Hecht syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Rokitansky sequence	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Noonan syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Zellweger syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Prader-Willi syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Associated morphology	False	Congenital malformation	Inferred relationship	Some	3
Pyknodysostosis	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Warburg syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Sirenomelus sequence	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital anomaly of carotid artery	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital elongation of innominate artery	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Lethal Kniest-like syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital malposition of the thyroid gland	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital protrusion of tongue	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Retro-oesophageal carotid artery	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Rolland-Debuqois syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital arteriovenous malformation of GIT	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Arteriovenous malformation of kidney	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Retinal arteriovenous malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Some	3
Congenital arteriovenous malformation of retina	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Pentalogy of Fallot	Associated morphology	False	Congenital malformation	Inferred relationship	Some	6
Hemicardia	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Absence or hypoplasia of the umbilical artery	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Arteriovenous malformation of precerebral vessels	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Fetal alcohol syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Fetal or neonatal effect of maternal use of alcohol	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital malformation syndromes affecting facial appearance	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital malformation syndromes associated with short stature	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital malformation syndromes involving limbs	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Aglossia-adactyly syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital malformation syndromes with metabolic disturbances	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Biemond's syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Ullrich-Feichtiger syndrome, chimaera	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Acephalothorax	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital arteriovenous fistula of brain	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Mermaid sirenomelia	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Dextraposition of aorta in Fallot's tetralogy	Associated morphology	False	Congenital malformation	Inferred relationship	Some	6
Ventricular septal defect in Fallot's tetralogy	Associated morphology	False	Congenital malformation	Inferred relationship	Some	7
Atelosteogenesis/diastrophic dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Kniest-Stickler dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital malformation syndrome due to known exogenous cause	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Arteriovenous malformation of skin	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital peripheral aneurysm	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Fetal or neonatal effect of placental or breast transfer of alcohol	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital anomaly of the respiratory system	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Peripheral arteriovenous malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Tetralogy of Fallot NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some	6
Anomaly of artery NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Atresia of artery NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital brain aneurysm NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital aneurysm NEC	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Arthrogryposis, unspecified	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Other arthrogryposis syndromes	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Multiple epiphyseal dysplasia NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital malformation syndrome affecting facial appearance NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital malformation syndrome associated with short stature NOS	Associated morphology	False	Congenital malformation	Inferred relationship	Some

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Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set

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Id	Description	Lang	Type	Status	Case?	Module
183283010	Congenital malformation	en	Synonym	Active	Case insensitive	SNOMED CT core
642068012	Congenital malformation (morphologic abnormality)	en	Fully specified name	Active	Case insensitive	SNOMED CT core