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
Bardet-Biedl syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Cohen syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Pallister-Hall syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Multiple malformation syndrome due to non-infectious environmental agents	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Seckel syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Diastrophic dysplasia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Klippel-Trenaunay-Webers syndrom	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Persistent omphalomesenteric artery (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Multiple epiphyseal dysplasia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Hyperphosphatasemia tarda	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Lethal multiple pterygium syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Maternal PKU fetal effect	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Fragile X syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Jarcho-Levin syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Fetal methyl mercury syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Familial arthrogryposis-cholestatic hepatorenal syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Chondroectodermal dysplasia (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Franceschetti-Kleins syndrom	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Frontometaphyseal dysplasia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Weaver syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Hajdu-Cheney syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Williams syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Larsen syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Dens evaginatus	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	3
Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Myxedematous form of cretinism	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Multiple malformation syndrome with facial defects as major feature	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Cleidocranial dysostosis	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	4
Fetal aminopterin syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Miller syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Fetal trimethadione syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
missbildat foster med sirenomyeli	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Cerebral-retinal arteriovenous aneurysm (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
VACTEL syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Ataxia-telangiectasia syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Rothmund-Thomson syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Fetal hydantoin syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
hypertermiinducerad defekt	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Congenital adhesions of tongue	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Crooked calf syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Allemann's syndrome (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
X-linked hydrocephalus syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Aase syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Moore-Federman syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Pena-Shokeir-fenotyp	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Marshall-Smith syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Jugular lymphatic obstruction sequence	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Tongue absent	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Endemic cretinism	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Sotos' syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Johanson-Blizzard syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Septo-optic dysplasia sequence	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	3
Robinow syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Angelman syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Amyoplasia congenita disruptive sequence	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Grebe syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Multiple malformation syndrome, moderate short stature, facial	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Neu-Laxova syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Tuberculum paramolare	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	4
Stickler syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Hallermann-Streiff syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Lowe syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Wildervanck syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
blefarofimossyndrom	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Aplasia of cementum	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Marinesco-Sjögren syndrome (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Escobar syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Mulibrey nanism syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Opitz-Frias syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Treacher Collins syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Multiple system malformation syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Dyggve-Melchior-Clausen syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Kenny syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Caudal regression syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
22q11-deletionssyndromet	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
amnionbandsyndrom	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Arteriovenous malformation of liver	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Bifid tongue	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Sporadic cretinism	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Radial aplasia-thrombocytopenia syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Immotile cilia syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Tetralogy of Fallot	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	5
Schwartz syndrom	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Distichiasis-lymphedema syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Hutchinson's teeth	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Frontonasal dysplasia sequence	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Bird tongue	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	3
Hecht syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Rokitansky sequence	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Noonan syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Zellweger syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Prader-Willi syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	3
Pyknodysostosis	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Warburg syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
sirenomelisekvens	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Congenital anomaly of carotid artery	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital elongation of innominate artery	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Lethal Kniest-like syndrome	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)