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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
Spina bifida aperta of cervical spine Occurrence True Congenital Inferred relationship Some 1
Spina bifida aperta of cervical spine Occurrence True Congenital Inferred relationship Some 3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome Occurrence True Congenital Inferred relationship Some 1
Atrichia congenita Occurrence False Congenital Inferred relationship Some 1
Macrocolon Occurrence False Congenital Inferred relationship Some 1
Cooks syndrome Occurrence True Congenital Inferred relationship Some 1
Athabaskan brainstem dysgenesis syndrome Occurrence True Congenital Inferred relationship Some 1
Catel Manzke syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital rhabdomyoma of heart Occurrence True Congenital Inferred relationship Some 1
Mesotaurodontism Occurrence False Congenital Inferred relationship Some 1
Total anomalous pulmonary venous return Occurrence True Congenital Inferred relationship Some 1
Pseudoprogeria syndrome Occurrence True Congenital Inferred relationship Some 2
Pseudoprogeria syndrome Occurrence True Congenital Inferred relationship Some 1
Pseudoprogeria syndrome Occurrence False Congenital Inferred relationship Some 3
Pseudoprogeria syndrome Occurrence True Congenital Inferred relationship Some 4
Congenital diverticulosis of small intestine Occurrence False Congenital Inferred relationship Some 1
Overriding skull bones Occurrence True Congenital Inferred relationship Some 1
Congenital pulmonary vein confluence Occurrence True Congenital Inferred relationship Some 1
Laryngeal cleft type II Occurrence True Congenital Inferred relationship Some 1
Albinism with deafness syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant spondylocostal dysostosis Occurrence True Congenital Inferred relationship Some 1
Chondrodysplasia punctata Toriello type Occurrence True Congenital Inferred relationship Some 1
Oculocerebrofacial syndrome Kaufman type Occurrence True Congenital Inferred relationship Some 1
Oculocerebrofacial syndrome Kaufman type Occurrence True Congenital Inferred relationship Some 2
Heart defect and limb shortening syndrome Occurrence True Congenital Inferred relationship Some 2
Heart defect and limb shortening syndrome Occurrence True Congenital Inferred relationship Some 1
German syndrome Occurrence False Congenital Inferred relationship Some 1
German syndrome Occurrence True Congenital Inferred relationship Some 3
Incomplete anencephaly Occurrence True Congenital Inferred relationship Some 1
Hypoplasia of right ventricular outflow tract Occurrence True Congenital Inferred relationship Some 1
Coronal hypospadias Occurrence True Congenital Inferred relationship Some 2
Double uterus affecting pregnancy Occurrence True Congenital Inferred relationship Some 1
Craniometadiaphyseal dysplasia wormian bone type Occurrence True Congenital Inferred relationship Some 1
12q14 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
12q14 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 3
12q14 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
Derodidymis Occurrence True Congenital Inferred relationship Some 1
Acropectorovertebral dysplasia Occurrence True Congenital Inferred relationship Some 3
Acropectorovertebral dysplasia Occurrence True Congenital Inferred relationship Some 1
Acropectorovertebral dysplasia Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive amelia Occurrence True Congenital Inferred relationship Some 1
Diaphragmatic defect, limb deficiency, skull defect syndrome Occurrence True Congenital Inferred relationship Some 3
Diaphragmatic defect, limb deficiency, skull defect syndrome Occurrence True Congenital Inferred relationship Some 4
Dextrocardia Occurrence True Congenital Inferred relationship Some 1
Overriding left ventriculoarterial valve Occurrence False Congenital Inferred relationship Some 1
Hypotrichosis and intellectual disability syndrome Lopes type Occurrence True Congenital Inferred relationship Some 1
Hypotrichosis and intellectual disability syndrome Lopes type Occurrence True Congenital Inferred relationship Some 2
Holorachischisis Occurrence True Congenital Inferred relationship Some 2
MMEP syndrome Occurrence False Congenital Inferred relationship Some 1
MMEP syndrome Occurrence True Congenital Inferred relationship Some 2
Anencephalus Occurrence True Congenital Inferred relationship Some 1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Occurrence True Congenital Inferred relationship Some 1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Occurrence True Congenital Inferred relationship Some 6
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Occurrence True Congenital Inferred relationship Some 4
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Occurrence True Congenital Inferred relationship Some 2
Acrofrontofacionasal dysostosis Occurrence True Congenital Inferred relationship Some 2
Acrofrontofacionasal dysostosis Occurrence True Congenital Inferred relationship Some 1
Doubling of uterus with doubling of cervix and vagina with obstruction Occurrence True Congenital Inferred relationship Some 1
Acro-oto-ocular syndrome Occurrence True Congenital Inferred relationship Some 2
Sacral spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with ventricular component and interchordal shunting under inferior bridging leaflet Occurrence True Congenital Inferred relationship Some 1
Congenital vertical mandibular hypoplasia Occurrence True Congenital Inferred relationship Some 1
Dysmorphism, short stature, deafness, disorder of sex development syndrome Occurrence True Congenital Inferred relationship Some 2
Dysmorphism, short stature, deafness, disorder of sex development syndrome Occurrence True Congenital Inferred relationship Some 1
Pseudochondroplasia Occurrence True Congenital Inferred relationship Some 1
Lymphopenic agammaglobulinaemia - short-limbed dwarfism syndrome Occurrence False Congenital Inferred relationship Some 1
Lymphopenic agammaglobulinaemia - short-limbed dwarfism syndrome Occurrence False Congenital Inferred relationship Some 2
Manus plana Occurrence True Congenital Inferred relationship Some 1
Persistent left posterior cardinal vein Occurrence False Congenital Inferred relationship Some 2
Persistent left posterior cardinal vein Occurrence True Congenital Inferred relationship Some 1
Radial polydactyly Wassel 7 Occurrence False Congenital Inferred relationship Some 1
Congenital abnormality of iris and ciliary body Occurrence True Congenital Inferred relationship Some 1
Increased anogenital distance Occurrence True Congenital Inferred relationship Some 1
Megacalycosis Occurrence False Congenital Inferred relationship Some 1
Incomplete ossification of mandible Occurrence True Congenital Inferred relationship Some 1
Brachygnathism Occurrence True Congenital Inferred relationship Some 1
Congenital cataract ichthyosis syndrome Occurrence True Congenital Inferred relationship Some 1
Neurocutaneous syndrome Occurrence True Congenital Inferred relationship Some 1
Weaver Williams syndrome Occurrence True Congenital Inferred relationship Some 1
Spinocerebellar ataxia dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 2
Spinocerebellar ataxia dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
Spinocerebellar ataxia dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 4
Spinocerebellar ataxia dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 3
Spina bifida without hydrocephalus - open Occurrence True Congenital Inferred relationship Some 2
Congenital hypertrichosis lanuginosa Occurrence True Congenital Inferred relationship Some 1
Congenital cervicoaural fistula Occurrence True Congenital Inferred relationship Some 1
Congenital arteriovenous fistula stenosis Occurrence True Congenital Inferred relationship Some 1
Testicular regression syndrome Occurrence True Congenital Inferred relationship Some 1
Cranio-osteoarthropathy Occurrence True Congenital Inferred relationship Some 1
Sternum bifidum Occurrence True Congenital Inferred relationship Some 1
Mietens syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital phlebectasia Occurrence False Congenital Inferred relationship Some 1
Junctional epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Hypertelorism Occurrence True Congenital Inferred relationship Some 1
Hay-Wells syndrome of ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 3
Spondyloepimetaphyseal dysplasia aggrecan type Occurrence True Congenital Inferred relationship Some 1
Congenital rectovaginal fistula Occurrence True Congenital Inferred relationship Some 1
Cutis laxa, x-linked Occurrence True Congenital Inferred relationship Some 1
Mannosidosis, type I Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle Occurrence True Congenital Inferred relationship Some 1
Congenital tracheo-oesophageal fistula with oesophageal stenosis Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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