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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital malformation	Is a	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)

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 (core metadata concept)
Immotile cilia syndrome due to excessively long cilia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Young's syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Rutland ciliary disorientation syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Arterial malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypoplasia of artery (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Persistence of primitive artery (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Persistent cerebral embryonic artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital arteriovenous malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cerebral arteriovenous malformation (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Parkes Weber syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Truncal arteriovenous fistula	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diffuse arteriovenous fistula	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hennekam lymphangiectasia-lymphoedema syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
angiome artérioveineux	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital arteriovenous fistula	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital arteriovenous fistula occlusion	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital arteriovenous fistula stenosis	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital arteriovenous fistula thrombosis	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital arteriovenous fistula infection	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital arteriovenous fistula aneurysm (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital arteriovenous fistula hemorrhage	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital arteriovenous fistula rupture	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Arteriovenous-lymphatic malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital renal artery aneurysm	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ochoa syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypothyroidism without goitre	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital thyroid hypoplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital atrophy of thyroid	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital iodine deficiency syndrome of mixed type	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital iodine deficiency syndrome of neurological type	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Orofacial-digital syndrome III	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Orofacial-digital syndrome IV	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Arthrogryposis	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Hutchinson's triad	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
DeSanctis-Cacchione syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Sjögren-Larsson syndrome (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Leprechaunism syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurologic form of cretinism	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal arteriovenous dilatation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Retinal arteriovenous shunt	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Aberrant artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lobar holoprosencephaly	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alobar holoprosencephaly	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Semi-lobar holoprosencephaly (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Sacral dysgenesis	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Lumbosacral agenesis	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malformation of the eyebrow	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Synophrys	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Absent eyebrow	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Double eyebrow (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Tetralogy of Fallot with pulmonary stenosis	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Tetralogy of Fallot with atresia of pulmonary valve	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Intrapulmonary arteriovenous fistula	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Isolation of common carotid artery	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Schneckenbecken dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Boomerang dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Atelosteogenesis type 2	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Omodysplasia I	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Omodysplasia II	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Pseudodiastrophic dysplasia (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Otospondylomegaepiphyseal dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spondyloepimetaphyseal dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Wolcott-Rallison dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Trichorhinophalangeal dysplasia type I	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasias with significant membranous bone involvement	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepimetaphysäre Dysplasie mit Überstreckbarkeit der Gelenke	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteodysplastic primordial dwarfism	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteodysplastic primordial dwarfism, type 1	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteodysplastic primordial dwarfism, type 2	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Endosteal hyperostoses (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Worth disease	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait.	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniometaphyseal dysplasia - severe type (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniometaphyseal dysplasia - mild type	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculodento-osseous dysplasia - severe type	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oculodento-osseous dysplasia - mild type	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital malformation caused by cytotoxic agents (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Fetal benzodiazepine syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Fetal captopril/enalapril syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Fetal carbamazepine syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Foetal cocaine syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Fetal minoxidil syndrome (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Fetal misoprostol syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Fetal primidone syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Fetal toluene syndrome	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
fraxa	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
fraxe	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinal arteriovenous malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphism	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Ruptured cerebral arteriovenous malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ruptured spinal arteriovenous malformation	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital hypothyroidism with diffuse goiter (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Kniest-Stickler dysplasia group	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniometadiaphyseal dysplasia	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Multiple congenital malformations	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Pentalogy of Cantrell	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital arterial aneurysm	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acquired renal arteriovenous fistula (disorder)	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Multiple epiphyseal dysplasia tarda type IIIa	Associated morphology	False	Congenital malformation	Inferred relationship	Existential restriction modifier (core metadata concept)

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

POSSIBLY EQUIVALENT TO association reference set

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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
183283010	Congenital malformation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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