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255399007: Congenital (qualifier value)

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

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) 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 Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Acral peeling skin syndrome Occurrence True Congenital Inferred relationship Some 1
Non syndromic dextrocardia Occurrence True Congenital Inferred relationship Some 1
Non syndromic camptodactyly of fingers (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of cervical vertebra Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of bone of forearm (disorder) Occurrence True Congenital Inferred relationship Some 1
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
MARCH syndrome Occurrence True Congenital Inferred relationship Some 1
MARCH syndrome Occurrence True Congenital Inferred relationship Some 2
Tall stature, intellectual disability, renal anomalies syndrome Occurrence True Congenital Inferred relationship Some 1
Overgrowth syndrome with 2q37 translocation Occurrence True Congenital Inferred relationship Some 1
Overgrowth syndrome with 2q37 translocation Occurrence True Congenital Inferred relationship Some 2
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Low density lipoprotein receptor-related protein 5 related primary osteoporosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Albinism with deafness syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Craniofrontonasal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Occurrence True Congenital Inferred relationship Some 3
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Occurrence True Congenital Inferred relationship Some 4
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Occurrence False Congenital Inferred relationship Some 1
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Occurrence False Congenital Inferred relationship Some 3
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 3
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 4
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 5
RERE-related neurodevelopmental syndrome Occurrence True Congenital Inferred relationship Some 1
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) Occurrence True Congenital Inferred relationship Some 1
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) Occurrence True Congenital Inferred relationship Some 2
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Occurrence True Congenital Inferred relationship Some 1
TBCK-related intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 3
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 76 (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 76 (disorder) Occurrence False Congenital Inferred relationship Some 3
SIX homeobox 2-related frontonasal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
SIX homeobox 2-related frontonasal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 3 (disorder) Occurrence True Congenital Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 3 (disorder) Occurrence True Congenital Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 3 (disorder) Occurrence True Congenital Inferred relationship Some 3
Split-foot malformation, mesoaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Split-foot malformation, mesoaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Some 2
Split-foot malformation, mesoaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Some 3
Split-foot malformation, mesoaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Some 4
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Fried syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Incontinentia pigmenti syndrome Occurrence True Congenital Inferred relationship Some 3
Incontinentia pigmenti syndrome Occurrence True Congenital Inferred relationship Some 4
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Occurrence True Congenital Inferred relationship Some 1
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) Occurrence True Congenital Inferred relationship Some 1
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) Occurrence True Congenital Inferred relationship Some 2
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) Occurrence True Congenital Inferred relationship Some 3
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Occurrence True Congenital Inferred relationship Some 2
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Occurrence True Congenital Inferred relationship Some 1
POGLUT1-related limb girdle muscular dystrophy R21 Occurrence True Congenital Inferred relationship Some 2
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Acquired subpulmonary stenosis associated with functionally univentricular heart Occurrence True Congenital Inferred relationship Some 2
Subpulmonary stenosis associated with functionally univentricular heart as complication of procedure (disorder) Occurrence True Congenital Inferred relationship Some 3
Acquired subpulmonary stenosis due to restrictive ventricular defect associated with functionally univentricular heart Occurrence True Congenital Inferred relationship Some 3
Subaortic stenosis associated with functionally univentricular heart as complication of procedure Occurrence True Congenital Inferred relationship Some 1
Acquired subaortic stenosis associated with functionally univentricular heart (disorder) Occurrence True Congenital Inferred relationship Some 2
Acquired subaortic stenosis due to restrictive ventricular septal defect associated with functionally univentricular heart Occurrence True Congenital Inferred relationship Some 3
Allan-Herndon-Dudley syndrome Occurrence False Congenital Inferred relationship Some 1
Allan-Herndon-Dudley syndrome Occurrence True Congenital Inferred relationship Some 2
Allan-Herndon-Dudley syndrome Occurrence False Congenital Inferred relationship Some 3
Allan-Herndon-Dudley syndrome Occurrence True Congenital Inferred relationship Some 4
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Oculootoradial syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Cardiospondylocarpofacial syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Lowry Yong syndrome Occurrence True Congenital Inferred relationship Some 4
Deafness and intellectual disability Martin Probst type syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital cataract with deafness and hypogonadism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Deafness craniofacial syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 7
Severe X-linked mitochondrial encephalomyopathy (disorder) Occurrence True Congenital Inferred relationship Some 2
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 1
Combined oxidative phosphorylation defect type 30 Occurrence True Congenital Inferred relationship Some 1
Combined oxidative phosphorylation defect type 29 Occurrence True Congenital Inferred relationship Some 2
Combined oxidative phosphorylation defect type 27 Occurrence True Congenital Inferred relationship Some 2
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
X-linked corneal dermoid (disorder) Occurrence True Congenital Inferred relationship Some 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 3
Kosaki overgrowth syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Kosaki overgrowth syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2

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