112635002: Congenital malformation (morphologic abnormality)

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

Descriptions:

Id Description Lang Type Status Case? Module

183283010 Congenital malformation en Synonym Active Entire term case insensitive SNOMED CT core module

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

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Immotile cilia syndrome due to defective radial spokes	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Immotile cilia syndrome due to excessively long cilia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Young's syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Rutland ciliary disorientation syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Arterial malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Hypoplasia of artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Persistence of primitive artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Persistent cerebral embryonic artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital arteriovenous malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Cerebral arteriovenous malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Parkes Weber syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Truncal arteriovenous fistula	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Diffuse arteriovenous fistula	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Hennekam lymphangiectasia-lymphedema syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Arteriovenous angioma	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital arteriovenous fistula	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital arteriovenous fistula occlusion	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Congenital arteriovenous fistula stenosis	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital arteriovenous fistula thrombosis	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital arteriovenous fistula infection	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital arteriovenous fistula aneurysm	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Congenital arteriovenous fistula hemorrhage	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Congenital arteriovenous fistula rupture	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Arteriovenous-lymphatic malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital renal artery aneurysm	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Ochoa syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Congenital hypothyroidism without goiter	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Congenital thyroid hypoplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Congenital atrophy of thyroid	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Congenital iodine deficiency syndrome of mixed type	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Congenital iodine deficiency syndrome of neurological type	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Orofacial-digital syndrome III	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Orofacial-digital syndrome IV	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Arthrogryposis	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Hutchinson's triad	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
DeSanctis-Cacchione syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Sjögren-Larsson syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Leprechaunism syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Neurologic form of cretinism	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Retinal arteriovenous dilatation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Retinal arteriovenous shunt	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Aberrant artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Lobar holoprosencephaly	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Alobar holoprosencephaly	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Semi-lobar holoprosencephaly	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Sacral dysgenesis	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Lumbosacral agenesis	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Congenital malformation of the eyebrow	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Synophrys	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Absent eyebrow	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Double eyebrow	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Tetralogy of Fallot with pulmonary stenosis	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	6
Tetralogy of Fallot with pulmonary atresia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	6
Intrapulmonary arteriovenous fistula	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Isolation of common carotid artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Schneckenbecken dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Boomerang dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Atelosteogenesis type 2	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Omodysplasia I	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Omodysplasia II	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Pseudodiastrophic dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Otospondylomegaepiphyseal dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Autosomal recessive spondyloepimetaphyseal dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Wolcott-Rallison dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Trichorhinophalangeal dysplasia type I	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Dysplasias with significant membranous bone involvement	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia with joint laxity	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Osteodysplastic primordial dwarfism	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Osteodysplastic primordial dwarfism, type 1	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Osteodysplastic primordial dwarfism, type 2	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Endosteal hyperostoses	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Worth disease	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Endosteal hyperostoses with cerebellar hypoplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Craniometaphyseal dysplasia - severe type	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Craniometaphyseal dysplasia - mild type	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Oculodento-osseous dysplasia - severe type	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Oculodento-osseous dysplasia - mild type	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Congenital malformation caused by cytotoxic agents	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Fetal benzodiazepine syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Fetal captopril/enalapril syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Fetal carbamazepine syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Fetal cocaine syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Fetal minoxidil syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Fetal misoprostol syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Fetal primidone syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Fetal toluene syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
FRAXA	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
FRAXE	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Spinal arteriovenous malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Dysmorphism	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Ruptured cerebral arteriovenous malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Ruptured spinal arteriovenous malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Congenital hypothyroidism with diffuse goiter	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Kniest-Stickler dysplasia group	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Craniometadiaphyseal dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Multiple congenital malformations	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Pentalogy of Cantrell	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier
Congenital arterial aneurysm	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	1
Acquired renal arteriovenous fistula	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier	2
Multiple epiphyseal dysplasia tarda type IIIa	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier

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