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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Acral peeling skin syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Non syndromic dextrocardia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Non syndromic camptodactyly of fingers Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Agenesis of cervical vertebra Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital deformity of bone of forearm Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Tall stature, intellectual disability, renal anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Overgrowth syndrome with 2q37 translocation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Overgrowth syndrome with 2q37 translocation Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Low density lipoprotein receptor-related protein 5 related primary osteoporosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Albinism with deafness syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Craniofrontonasal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
TBC1 domain containing kinase-related intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Autosomal recessive spastic paraplegia type 76 Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Autosomal recessive spastic paraplegia type 76 Occurrence False Congenital Inferred relationship Existential restriction modifier 3
SIX homeobox 2-related frontonasal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
SIX homeobox 2-related frontonasal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Camptodactyly syndrome Guadalajara type 3 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Camptodactyly syndrome Guadalajara type 3 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Camptodactyly syndrome Guadalajara type 3 Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Split-foot malformation, mesoaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Split-foot malformation, mesoaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Split-foot malformation, mesoaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Split-foot malformation, mesoaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Fried syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Incontinentia pigmenti syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Incontinentia pigmenti syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Prenatal-onset spinal muscular atrophy with congenital bone fractures Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Prenatal-onset spinal muscular atrophy with congenital bone fractures Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Prenatal-onset spinal muscular atrophy with congenital bone fractures Occurrence True Congenital Inferred relationship Existential restriction modifier 3
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Lethal hydranencephaly, diaphragmatic hernia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Lethal hydranencephaly, diaphragmatic hernia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Lethal hydranencephaly, diaphragmatic hernia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Lethal hydranencephaly, diaphragmatic hernia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Acquired subpulmonary stenosis associated with functionally univentricular heart Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Subpulmonary stenosis associated with functionally univentricular heart as complication of procedure Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Acquired subpulmonary stenosis due to restrictive ventricular defect associated with functionally univentricular heart Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Subaortic stenosis associated with functionally univentricular heart as complication of procedure Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Acquired subaortic stenosis associated with functionally univentricular heart Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Acquired subaortic stenosis due to restrictive ventricular septal defect associated with functionally univentricular heart Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Monocarboxylate transporter 8 deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Monocarboxylate transporter 8 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Monocarboxylate transporter 8 deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Monocarboxylate transporter 8 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oculootoradial syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Cardiospondylocarpofacial syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Cleft palate and cleft lip with deafness and sacral lipoma syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Deafness and intellectual disability Martin Probst type syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital cataract with deafness and hypogonadism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Deafness with epiphyseal dysplasia and short stature syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Deafness craniofacial syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 7
Severe X-linked mitochondrial encephalomyopathy Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Combined oxidative phosphorylation defect type 30 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Combined oxidative phosphorylation defect type 29 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Combined oxidative phosphorylation defect type 27 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
X-linked corneal dermoid Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Kosaki overgrowth syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Kosaki overgrowth syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2

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