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
Immotile cilia syndrome due to defective radial spokes	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Immotile cilia syndrome due to excessively long cilia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Young's syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Rutland ciliary disorientation syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Arterial malformation	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Hypoplasia of artery	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Persistence of primitive artery	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Persistent cerebral embryonic artery	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital arteriovenous malformation	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Cerebral arteriovenous malformation	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Parkes Weber syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Truncal arteriovenous fistula	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Diffuse arteriovenous fistula	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Arteriovenous angioma	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital arteriovenous fistula	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital arteriovenous fistula occlusion	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Congenital arteriovenous fistula stenosis	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital arteriovenous fistula thrombosis	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital arteriovenous fistula infection	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital arteriovenous fistula aneurysm	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Congenital arteriovenous fistula haemorrhage	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Congenital arteriovenous fistula rupture	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Arteriovenous-lymphatic malformation	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital renal artery aneurysm	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Ochoa syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Congenital hypothyroidism without goitre	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Congenital thyroid hypoplasia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Congenital atrophy of thyroid	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Congenital iodine deficiency syndrome of mixed type (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Congenital iodine deficiency syndrome of neurological type (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Orofacial-digital syndrome III	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Arthrogryposis	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Hutchinson's triad	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
DeSanctis-Cacchione syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Leprechaunism syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
neurologisk typ av kreatinism	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Retinal arteriovenous dilatation	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Retinal arteriovenous shunt	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
aberrant artär	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Lobar holoprosencephaly	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Alobar holoprosencephaly	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Semi-lobar holoprosencephaly (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Sacral dysgenesis	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Lumbosacral agenesis	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Congenital malformation of the eyebrow	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Synophrys	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Absent eyebrow	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Double eyebrow	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Tetralogy of Fallot with pulmonary stenosis	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	6
Tetralogy of Fallot with pulmonary atresia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	6
intrapulmonell arteriovenös fistel	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Isolation of common carotid artery	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Schneckenbecken dysplasia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Boomerang dysplasia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Atelosteogenesis type 2	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
omodysplasi 1	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
omodysplasi 2	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Pseudodiastrophic dysplasia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
autosomal recessiv spondyloepimetafyseal dysplasi	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Wolcott-Rallison dysplasia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Trichorhinophalangeal dysplasia type I	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Dysplasias with significant membranous bone involvement	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia with joint laxity	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Osteodysplastic primordial dwarfism	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Osteodysplastic primordial dwarfism, type 1	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Osteodysplastic primordial dwarfism, type 2	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Endosteal hyperostoses	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Worth disease	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Endosteal hyperostoses with cerebellar hypoplasia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Craniometaphyseal dysplasia - severe type	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Craniometaphyseal dysplasia - mild type	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Oculodento-osseous dysplasia - severe type	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Oculodento-osseous dysplasia - mild type	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Congenital malformation due to cytotoxic agents	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Fetal benzodiazepine syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
fetalt kaptopril-/enalaprilsyndrom	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Fetal carbamazepine syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Fetal cocaine syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Fetal minoxidil syndrome (disorder)	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Fetal misoprostol syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Fetal primidone syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Fetal toluene syndrome	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
FRAXA	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
FRAXE	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Spinal arteriovenous malformation	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital malformation	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Dysmorphism	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Ruptured cerebral arteriovenous malformation	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Ruptured spinal arteriovenous malformation	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Congenital hypothyroidism with diffuse goitre	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Kniest-Sticklers dysplasigrupp	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Craniometadiaphyseal dysplasia	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
multipla medfödda missbildningar	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Pentalogy of Cantrell	Associated morphology	False	medfödd missbildning	Inferred relationship	Some
Congenital arterial aneurysm	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	1
Acquired renal arteriovenous fistula	Associated morphology	False	medfödd missbildning	Inferred relationship	Some	2
Multiple epiphyseal dysplasia tarda type IIIa	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)