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
Sacral dysgenesis	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Lumbosacral agenesis	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital malformation of the eyebrow	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Synophrys	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Absent eyebrow	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Double eyebrow	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Tetralogy of Fallot with pulmonary stenosis	Associated morphology	False	Congenital malformation	Inferred relationship	Some	6
Tetralogy of Fallot with pulmonary atresia	Associated morphology	False	Congenital malformation	Inferred relationship	Some	6
Intrapulmonary arteriovenous fistula	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Isolation of common carotid artery	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Schneckenbecken dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Boomerang dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Atelosteogenesis type 2	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Omodysplasia I	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Omodysplasia II	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Pseudodiastrophic dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Autosomal recessive spondyloepimetaphyseal dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Wolcott-Rallison dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Trichorhinophalangeal dysplasia type I	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Dysplasias with significant membranous bone involvement	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia with joint laxity	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Osteodysplastic primordial dwarfism	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Osteodysplastic primordial dwarfism, type 1	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Osteodysplastic primordial dwarfism, type 2	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Endosteal hyperostoses	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Worth disease	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Endosteal hyperostoses with cerebellar hypoplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Craniometaphyseal dysplasia - severe type	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Craniometaphyseal dysplasia - mild type	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Oculodento-osseous dysplasia - severe type	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Oculodento-osseous dysplasia - mild type	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Congenital malformation due to cytotoxic agents	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Fetal benzodiazepine syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Fetal captopril/enalapril syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Fetal carbamazepine syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Fetal cocaine syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Fetal minoxidil syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Fetal misoprostol syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Fetal primidone syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Fetal toluene syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
FRAXA	Associated morphology	False	Congenital malformation	Inferred relationship	Some
FRAXE	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Spinal arteriovenous malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital anomaly	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Dysmorphism	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Ruptured cerebral arteriovenous malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Ruptured spinal arteriovenous malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital hypothyroidism with diffuse goitre	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Kniest-Stickler dysplasia group	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Craniometadiaphyseal dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Multiple congenital malformations	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Pentalogy of Cantrell	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital arterial aneurysm	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Acquired renal arteriovenous fistula	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Multiple epiphyseal dysplasia tarda type IIIa	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Supernumerary roots	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Multiple malformation syndrome with senile-like appearance	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Trifid tongue	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Femoral hypoplasia - unusual facies syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Melnick-Needles syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Lenz-Majewski hyperostosis syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Aarskog syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Russell-Silver syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Coffin-Lowry syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	3
First arch syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Congenital arteriovenous fistula of kidney	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Complete congenital absence of teeth	Associated morphology	False	Congenital malformation	Inferred relationship	Some	3
Fibrochondrogenesis	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Fetal valproate syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Fusion of teeth	Associated morphology	False	Congenital malformation	Inferred relationship	Some	3
Sclerosteosis	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Child syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Mohr syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Mesiodens	Associated morphology	False	Congenital malformation	Inferred relationship	Some	2
Trichorhinophalangeal syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	3
Early urethral obstruction sequence	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Schinzel-Giedion syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Holt-Oram syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Cockayne syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Borjeson-Forssman-Lehmann syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Metatropic dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Multiple malformation syndrome with facial-limb defects as major feature	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Levy-Hollister syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Distal arthrogryposis syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Laterality sequence	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Metaphyseal chondrodysplasia, Jansen type	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Townes syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Congenital cerebral arteriovenous aneurysm	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Lymphopenic agammaglobulinaemia - short-limbed dwarfism syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	3
Dubowitz's syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Anodontia	Associated morphology	False	Congenital malformation	Inferred relationship	Some	3
VATER association	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Inherited arthrogryposis	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Melnick-Fraser syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1
Meckel-Gruber syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Schwartz-Jampel syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Thanatophoric dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Klippel's disease	Associated morphology	False	Congenital malformation	Inferred relationship	Some
Peg-shaped teeth	Associated morphology	False	Congenital malformation	Inferred relationship	Some	1

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Reference Sets

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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