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255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Case insensitive SNOMED CT core
380599019 Congenita en Synonym Active Case insensitive SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Case insensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Brachydactyly, short stature, retinitis pigmentosa syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital pseudoarthrosis of limb Occurrence True Congenital Inferred relationship Some 1
Internasal dysostosis Occurrence True Congenital Inferred relationship Some 1
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Occurrence True Congenital Inferred relationship Some 3
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Occurrence True Congenital Inferred relationship Some 1
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 71 Occurrence False Congenital Inferred relationship Some 1
Chondrodysplasia with joint dislocations gPAPP type Occurrence True Congenital Inferred relationship Some 1
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Occurrence True Congenital Inferred relationship Some 3
Maxillo-zygomatic dysostosis Occurrence True Congenital Inferred relationship Some 1
Dysplasia of eye Occurrence True Congenital Inferred relationship Some 1
10q22.3q23.3 microduplication syndrome Occurrence True Congenital Inferred relationship Some 2
10q22.3q23.3 microduplication syndrome Occurrence True Congenital Inferred relationship Some 1
Familial congenital palsy of trochlear nerve Occurrence True Congenital Inferred relationship Some 1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Occurrence True Congenital Inferred relationship Some 1
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome Occurrence True Congenital Inferred relationship Some 1
Hajdu-Cheney syndrome Occurrence True Congenital Inferred relationship Some 1
Severe combined immunodeficiency due to IKK2 deficiency Occurrence True Congenital Inferred relationship Some 1
Male emopamil-binding protein disorder with neurological defect Occurrence True Congenital Inferred relationship Some 1
Male emopamil-binding protein disorder with neurological defect Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 66 Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 66 Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spondylometaphyseal dysplasia Megarbane type Occurrence True Congenital Inferred relationship Some 1
Congenital atresia of coronary ostium Occurrence True Congenital Inferred relationship Some 1
Non-distal monosomy 12q Occurrence True Congenital Inferred relationship Some 1
Non-distal monosomy 12q Occurrence True Congenital Inferred relationship Some 2
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital primary hydronephrosis Occurrence False Congenital Inferred relationship Some 2
Marfanoid habitus, inguinal hernia, advanced bone age syndrome Occurrence True Congenital Inferred relationship Some 4
Marfanoid habitus, inguinal hernia, advanced bone age syndrome Occurrence True Congenital Inferred relationship Some 2
Marfanoid habitus, inguinal hernia, advanced bone age syndrome Occurrence True Congenital Inferred relationship Some 1
Marfanoid habitus, inguinal hernia, advanced bone age syndrome Occurrence True Congenital Inferred relationship Some 3
Regional odontodysplasia Occurrence False Congenital Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia Isidor type Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy with intellectual disability and severe epilepsy Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy with intellectual disability and severe epilepsy Occurrence True Congenital Inferred relationship Some 2
Autosomal spastic paraplegia type 72 Occurrence False Congenital Inferred relationship Some 1
Severe intellectual disability, progressive spastic diplegia syndrome Occurrence True Congenital Inferred relationship Some 1
Shell teeth Occurrence True Congenital Inferred relationship Some 1
Familial x-linked hypophosphataemic vitamin D refractory rickets Occurrence True Congenital Inferred relationship Some 1
Distal monosomy 7p syndrome Occurrence True Congenital Inferred relationship Some 2
Distal monosomy 7p syndrome Occurrence True Congenital Inferred relationship Some 1
Cerebellar cortical dysplasia Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 3 Occurrence False Congenital Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 3 Occurrence False Congenital Inferred relationship Some 1
Inherited congenital spastic tetraplegia Occurrence True Congenital Inferred relationship Some 2
Inherited congenital spastic tetraplegia Occurrence True Congenital Inferred relationship Some 1
Occipital pachygyria and polymicrogyria Occurrence True Congenital Inferred relationship Some 1
Occipital pachygyria and polymicrogyria Occurrence True Congenital Inferred relationship Some 2
Lipoic acid synthetase deficiency Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of coronary ostium Occurrence True Congenital Inferred relationship Some 1
Dermotrichic syndrome Occurrence True Congenital Inferred relationship Some 2
Dermotrichic syndrome Occurrence True Congenital Inferred relationship Some 1
Dermotrichic syndrome Occurrence True Congenital Inferred relationship Some 3
High bone mass osteogenesis imperfecta Occurrence True Congenital Inferred relationship Some 1
Spondylometaphyseal dysplasia A4 type Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency Occurrence True Congenital Inferred relationship Some 1
Maternal uniparental disomy of chromosome 21 Occurrence True Congenital Inferred relationship Some 1
Lethal arteriopathy syndrome due to fibulin-4 deficiency Occurrence True Congenital Inferred relationship Some 1
Multisystemic smooth muscle dysfunction syndrome Occurrence True Congenital Inferred relationship Some 1
Multisystemic smooth muscle dysfunction syndrome Occurrence True Congenital Inferred relationship Some 3
Multisystemic smooth muscle dysfunction syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 10 Occurrence True Congenital Inferred relationship Some 1
Congenital pontocerebellar hypoplasia type 10 Occurrence True Congenital Inferred relationship Some 2
Otospondylomegaepiphyseal dysplasia Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Occurrence True Congenital Inferred relationship Some 2
Pontine tegmental cap dysplasia Occurrence True Congenital Inferred relationship Some 1
Haemoglobinopathy Toms River Occurrence True Congenital Inferred relationship Some 1
X-linked calvarial hyperostosis Occurrence True Congenital Inferred relationship Some 1
Familial adrenal hypoplasia with absent pituitary luteinising hormone Occurrence True Congenital Inferred relationship Some 2
Familial adrenal hypoplasia with absent pituitary luteinising hormone Occurrence True Congenital Inferred relationship Some 3
Recessive mitochondrial ataxia syndrome Occurrence True Congenital Inferred relationship Some 1
Osteomesopycnosis Occurrence False Congenital Inferred relationship Some 1
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 3
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 2
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
Maternal uniparental disomy of chromosome 22 Occurrence True Congenital Inferred relationship Some 1
Sphenoidal dysostosis Occurrence True Congenital Inferred relationship Some 1
Spondylometaphyseal dysplasia Czarny Ratajczak type Occurrence True Congenital Inferred relationship Some 1
Dobrow syndrome Occurrence True Congenital Inferred relationship Some 1
Extensor tendons of finger anomalies Occurrence True Congenital Inferred relationship Some 1
Renal caliceal diverticuli and deafness syndrome Occurrence True Congenital Inferred relationship Some 2
Renal caliceal diverticuli and deafness syndrome Occurrence True Congenital Inferred relationship Some 1
Thoracic dysplasia and hydrocephalus syndrome Occurrence True Congenital Inferred relationship Some 1
Thoracic dysplasia and hydrocephalus syndrome Occurrence True Congenital Inferred relationship Some 2
Harlequin ichthyosis Occurrence True Congenital Inferred relationship Some 3
Ichthyosis bullosa of Siemens Occurrence True Congenital Inferred relationship Some 3
Annular epidermolytic ichthyosis Occurrence True Congenital Inferred relationship Some 3
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome Occurrence True Congenital Inferred relationship Some 3
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome Occurrence True Congenital Inferred relationship Some 1
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome Occurrence True Congenital Inferred relationship Some 2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Occurrence True Congenital Inferred relationship Some 2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Occurrence True Congenital Inferred relationship Some 4
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Occurrence True Congenital Inferred relationship Some 3
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Occurrence True Congenital Inferred relationship Some 1
Localised bullous ichthyosiform erythroderma Occurrence True Congenital Inferred relationship Some 3
Richieri Costa-da Silva syndrome Occurrence True Congenital Inferred relationship Some 2
Richieri Costa-da Silva syndrome Occurrence True Congenital Inferred relationship Some 1
Facial dysmorphism, developmental delay, behavioural abnormalities syndrome due to 10p11.21p12.31 microdeletion Occurrence True Congenital Inferred relationship Some 1
Facial dysmorphism, developmental delay, behavioural abnormalities syndrome due to 10p11.21p12.31 microdeletion Occurrence True Congenital Inferred relationship Some 2

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Reference Sets

Qualifier value foundation reference set

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