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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital malformation Is a anomalie congénitale false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Immotile cilia syndrome due to defective radial spokes Associated morphology False Congenital malformation Inferred relationship Some
    Immotile cilia syndrome due to excessively long cilia Associated morphology False Congenital malformation Inferred relationship Some
    Young's syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Rutland ciliary disorientation syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Arterial malformation Associated morphology False Congenital malformation Inferred relationship Some 1
    Hypoplasia of artery Associated morphology False Congenital malformation Inferred relationship Some 1
    Persistence of primitive artery Associated morphology False Congenital malformation Inferred relationship Some 1
    Persistent cerebral embryonic artery Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital arteriovenous malformation Associated morphology False Congenital malformation Inferred relationship Some 2
    Cerebral arteriovenous malformation Associated morphology False Congenital malformation Inferred relationship Some 2
    Parkes Weber syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Truncal arteriovenous fistula Associated morphology False Congenital malformation Inferred relationship Some 1
    Diffuse arteriovenous fistula Associated morphology False Congenital malformation Inferred relationship Some 2
    Hennekam lymphangiectasia-lymphedema syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    angiome artérioveineux Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital arteriovenous fistula Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital arteriovenous fistula occlusion Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital arteriovenous fistula stenosis Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital arteriovenous fistula thrombosis Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital arteriovenous fistula infection Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital arteriovenous fistula aneurysm Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital arteriovenous fistula haemorrhage Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital arteriovenous fistula rupture Associated morphology False Congenital malformation Inferred relationship Some 1
    Arteriovenous-lymphatic malformation Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital renal artery aneurysm Associated morphology False Congenital malformation Inferred relationship Some 2
    Ochoa syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Congenital hypothyroidism without goitre Associated morphology False Congenital malformation Inferred relationship Some
    Congenital thyroid hypoplasia Associated morphology False Congenital malformation Inferred relationship Some
    Congenital atrophy of thyroid Associated morphology False Congenital malformation Inferred relationship Some
    Congenital iodine deficiency syndrome of mixed type (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Congenital iodine deficiency syndrome of neurological type (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Orofacial-digital syndrome III Associated morphology False Congenital malformation Inferred relationship Some 1
    Orofacial-digital syndrome IV Associated morphology False Congenital malformation Inferred relationship Some 1
    Arthrogryposis Associated morphology False Congenital malformation Inferred relationship Some
    Hutchinson's triad Associated morphology False Congenital malformation Inferred relationship Some 1
    DeSanctis-Cacchione syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Sjögren-Larsson syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Leprechaunism syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Neurologic form of cretinism Associated morphology False Congenital malformation Inferred relationship Some
    Retinal arteriovenous dilatation Associated morphology False Congenital malformation Inferred relationship Some 1
    Retinal arteriovenous shunt Associated morphology False Congenital malformation Inferred relationship Some 2
    Aberrant artery Associated morphology False Congenital malformation Inferred relationship Some 1
    Lobar holoprosencephaly Associated morphology False Congenital malformation Inferred relationship Some 1
    Alobar holoprosencephaly Associated morphology False Congenital malformation Inferred relationship Some 1
    Semi-lobar holoprosencephaly Associated morphology False Congenital malformation Inferred relationship Some 1
    Sacral dysgenesis Associated morphology False Congenital malformation Inferred relationship Some
    Lumbosacral agenesis (disorder) 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 atresia of pulmonary valve (disorder) 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
    dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire 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
    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 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 (disorder) Associated morphology False Congenital malformation Inferred relationship Some 2
    Congenital malformation caused by cytotoxic agents (disorder) 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 (disorder) 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 malformation 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

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    Reference Sets

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    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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