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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
Cheilopalatoschisis Occurrence False Congenital Inferred relationship Some 2
Bilateral complete and incomplete cleft lip Occurrence False Congenital Inferred relationship Some 1
Bilateral incomplete cleft lip and bilateral incomplete cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 2
Bilateral cleft lip Occurrence True Congenital Inferred relationship Some 1
Cleft upper lip, upper jaw AND palate Occurrence True Congenital Inferred relationship Some 2
Cheilognathouranoschisis Occurrence True Congenital Inferred relationship Some 2
Cheilognathopalatoschisis Occurrence False Congenital Inferred relationship Some 2
Cleft lip and cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 2
Tetralogy of Fallot with absent pulmonary valve Occurrence True Congenital Inferred relationship Some 2
Secondary lens coloboma Occurrence False Congenital Inferred relationship Some 2
Primary lens coloboma Occurrence False Congenital Inferred relationship Some 2
Pulmonary atresia and ventricular septal defect with aorta from left ventricle Occurrence True Congenital Inferred relationship Some 1
Pulmonary atresia and ventricular septal defect with aorta from right ventricle Occurrence True Congenital Inferred relationship Some 1
Pulmonary atresia with ventricular septal defect of Fallot type Occurrence True Congenital Inferred relationship Some 1
Reardon Hall Slaney syndrome Occurrence True Congenital Inferred relationship Some 2
Delayed membranous cranial ossification Occurrence True Congenital Inferred relationship Some 1
Colobomatous microphthalmia Occurrence True Congenital Inferred relationship Some 1
Lowry Yong syndrome Occurrence True Congenital Inferred relationship Some 2
Zlotogora Ogur syndrome Occurrence True Congenital Inferred relationship Some 1
Zlotogora Ogur syndrome Occurrence True Congenital Inferred relationship Some 2
Coloboma of macula with brachydactyly type B syndrome Occurrence True Congenital Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome Occurrence True Congenital Inferred relationship Some 1
Biemond syndrome type 2 Occurrence False Congenital Inferred relationship Some 2
Bilateral microtia with deafness and cleft palate syndrome Occurrence True Congenital Inferred relationship Some 1
Familial median cleft of upper and lower lip Occurrence True Congenital Inferred relationship Some 1
Familial median cleft of upper and lower lip Occurrence True Congenital Inferred relationship Some 2
Abruzzo Erickson syndrome Occurrence True Congenital Inferred relationship Some 1
Abruzzo Erickson syndrome Occurrence True Congenital Inferred relationship Some 2
Aase Smith type 1 syndrome Occurrence True Congenital Inferred relationship Some 1
Spondyloepiphyseal dysplasia Nishimura type Occurrence True Congenital Inferred relationship Some 1
Uveal coloboma with cleft lip and palate and intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Uveal coloboma with cleft lip and palate and intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 2
Uveal coloboma with cleft lip and palate and intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 6
Microcephaly cleft palate syndrome Occurrence True Congenital Inferred relationship Some 1
Lethal omphalocele with cleft palate syndrome Occurrence True Congenital Inferred relationship Some 2
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Occurrence True Congenital Inferred relationship Some 1
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Occurrence True Congenital Inferred relationship Some 2
Cleft palate with short stature and vertebral anomaly syndrome Occurrence True Congenital Inferred relationship Some 1
Cleft palate with stapes fixation and oligodontia syndrome Occurrence True Congenital Inferred relationship Some 1
Temtamy syndrome Occurrence True Congenital Inferred relationship Some 1
Cholestasis with pigmentary retinopathy and cleft palate syndrome Occurrence True Congenital Inferred relationship Some 1
Cholestasis with pigmentary retinopathy and cleft palate syndrome Occurrence True Congenital Inferred relationship Some 2
CHIME syndrome Occurrence True Congenital Inferred relationship Some 1
Cooper Jabs syndrome Occurrence True Congenital Inferred relationship Some 1
Hypertelorism with microtia and facial clefting syndrome Occurrence True Congenital Inferred relationship Some 1
Hypertelorism with microtia and facial clefting syndrome Occurrence True Congenital Inferred relationship Some 2
Karsch Neugebauer syndrome Occurrence True Congenital Inferred relationship Some 1
Karsch Neugebauer syndrome Occurrence True Congenital Inferred relationship Some 2
Okamoto syndrome Occurrence True Congenital Inferred relationship Some 1
Pai syndrome Occurrence True Congenital Inferred relationship Some 1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome Occurrence True Congenital Inferred relationship Some 1
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Occurrence True Congenital Inferred relationship Some 1
Auriculoocular anomaly and cleft lip syndrome Occurrence False Congenital Inferred relationship Some 1
Bamforth Lazarus syndrome Occurrence True Congenital Inferred relationship Some 1
Macular coloboma, cleft palate, hallux valgus syndrome Occurrence True Congenital Inferred relationship Some 1
Macular coloboma, cleft palate, hallux valgus syndrome Occurrence True Congenital Inferred relationship Some 2
Cleft hard and soft palate with cleft lip Occurrence True Congenital Inferred relationship Some 2
Cleft of hard palate and cleft lip Occurrence True Congenital Inferred relationship Some 2
Cleft palate and bilateral cleft lip Occurrence True Congenital Inferred relationship Some 2
Cleft of soft palate and cleft lip Occurrence True Congenital Inferred relationship Some 2
Congenital arteriovenous malformation of duodenum Occurrence False Congenital Inferred relationship Some 207371296
Cytochrome b>3< deficiency Occurrence False Congenital Inferred relationship Some
Erythrocytosis due to cyanotic congenital heart disease Occurrence False Congenital Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Occurrence False Congenital Inferred relationship Some
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome Occurrence False Congenital Inferred relationship Some
Cheilognathoprosoposchisis Occurrence False Congenital Inferred relationship Some 5
Cleft mandible Occurrence False Congenital Inferred relationship Some 2
Lowry Yong syndrome Occurrence True Congenital Inferred relationship Some 1
Trifid tongue Occurrence False Congenital Inferred relationship Some
Splenogonadal fusion Occurrence False Congenital Inferred relationship Some 4
Lethal omphalocele with cleft palate syndrome Occurrence True Congenital Inferred relationship Some 1
Weaver Williams syndrome Occurrence True Congenital Inferred relationship Some 2
Weaver Williams syndrome Occurrence False Congenital Inferred relationship Some 3
Pfeiffer Palm Teller syndrome Occurrence True Congenital Inferred relationship Some 2
Pfeiffer Palm Teller syndrome Occurrence True Congenital Inferred relationship Some 3
Epileptic encephalopathy with global cerebral demyelination Occurrence False Congenital Inferred relationship Some 2
Digestive duplication cyst of tongue Occurrence True Congenital Inferred relationship Some 1
Cataract, congenital heart disease, neural tube defect syndrome Occurrence False Congenital Inferred relationship Some 5
Cataract, congenital heart disease, neural tube defect syndrome Occurrence False Congenital Inferred relationship Some 6
Cataract, congenital heart disease, neural tube defect syndrome Occurrence False Congenital Inferred relationship Some 7
Cataract, congenital heart disease, neural tube defect syndrome Occurrence False Congenital Inferred relationship Some 8
Cataract, congenital heart disease, neural tube defect syndrome Occurrence False Congenital Inferred relationship Some 9
3q13 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
3q13 microdeletion syndrome Occurrence False Congenital Inferred relationship Some 3
4p16.3 microduplication syndrome Occurrence True Congenital Inferred relationship Some 1
7q11.23 microduplication syndrome Occurrence True Congenital Inferred relationship Some 1
Familial isolated congenital asplenia Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, cataract, calcified pinna, myopathy syndrome Occurrence True Congenital Inferred relationship Some 4
Intellectual disability, cataract, calcified pinna, myopathy syndrome Occurrence False Congenital Inferred relationship Some 5
Intellectual disability, cataract, calcified pinna, myopathy syndrome Occurrence False Congenital Inferred relationship Some 6
Intellectual disability, cataract, calcified pinna, myopathy syndrome Occurrence False Congenital Inferred relationship Some 7
Oculoauriculovertebral spectrum with radial defects Occurrence True Congenital Inferred relationship Some 2
Oculoauriculovertebral spectrum with radial defects Occurrence False Congenital Inferred relationship Some 3
Ring chromosome 13 syndrome Occurrence True Congenital Inferred relationship Some 1
Splenogonadal fusion, limb defect, micrognathia syndrome Occurrence False Congenital Inferred relationship Some 6
Splenogonadal fusion, limb defect, micrognathia syndrome Occurrence False Congenital Inferred relationship Some 7
Splenogonadal fusion, limb defect, micrognathia syndrome Occurrence False Congenital Inferred relationship Some 8
Splenogonadal fusion, limb defect, micrognathia syndrome Occurrence False Congenital Inferred relationship Some 9
Splenogonadal fusion, limb defect, micrognathia syndrome Occurrence False Congenital Inferred relationship Some 10
X-linked intellectual disability Nascimento type Occurrence True Congenital Inferred relationship Some 1
Xp22.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2

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Reference Sets

Qualifier value foundation reference set

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