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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
Partial deletion of long arm of chromosome 16 Occurrence True Congenital Inferred relationship Some 2
16q24.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 16 Occurrence True Congenital Inferred relationship Some 2
Chromosome 16p11.2 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
Duplication of part of short arm of chromosome 16 Occurrence True Congenital Inferred relationship Some 1
Duplication of part of short arm of chromosome 16 Occurrence True Congenital Inferred relationship Some 2
Proximal 16p11.2 microduplication syndrome Occurrence True Congenital Inferred relationship Some 2
16p13.11 microduplication syndrome Occurrence True Congenital Inferred relationship Some 2
16p13.3 microduplication syndrome Occurrence True Congenital Inferred relationship Some 2
16p11.2p12.2 microduplication syndrome Occurrence True Congenital Inferred relationship Some 2
Duplication of part of long arm of chromosome 16 Occurrence True Congenital Inferred relationship Some 1
Duplication of part of long arm of chromosome 16 Occurrence True Congenital Inferred relationship Some 2
Distal trisomy 16q Occurrence True Congenital Inferred relationship Some 2
2q24 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Deletion of part of long arm of chromosome 2 Occurrence True Congenital Inferred relationship Some 1
2q31.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
2q32q33 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
2p15p16.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
2p21 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Deletion of part of short arm of chromosome 2 Occurrence True Congenital Inferred relationship Some 1
Mutilating keratoderma Occurrence True Congenital Inferred relationship Some 5
Natal teeth Occurrence True Congenital Inferred relationship Some 1
Tetrasomy 12p syndrome Occurrence True Congenital Inferred relationship Some 2
Mosaic trisomy 8 syndrome Occurrence True Congenital Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome Occurrence True Congenital Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome Occurrence True Congenital Inferred relationship Some 3
Blepharophimosis epicanthus inversus ptosis syndrome plus Occurrence True Congenital Inferred relationship Some 5
Congenital mixed conductive and sensorineural hearing loss Occurrence True Congenital Inferred relationship Some 1
Trisomy 13 - mitotic nondisjunction mosaicism Occurrence True Congenital Inferred relationship Some 2
Trisomy 18 - mitotic nondisjunction mosaicism Occurrence True Congenital Inferred relationship Some 2
Nonfenestrated interatrial communication within oval fossa Occurrence True Congenital Inferred relationship Some 1
Palmoplantar hyperkeratosis sclerodactyly syndrome Occurrence True Congenital Inferred relationship Some 2
Dyshormonogenetic goitre AND iodide leak Occurrence True Congenital Inferred relationship Some 1
Familial dyshormonogenetic goitre Occurrence True Congenital Inferred relationship Some 1
Dyshormonogenic goitre Occurrence True Congenital Inferred relationship Some 1
X-linked oligodontia Occurrence True Congenital Inferred relationship Some 3
Camptodactyly of finger Occurrence True Congenital Inferred relationship Some 1
Congenital faecal incontinence Occurrence True Congenital Inferred relationship Some 1
Hereditary congenital prekallikrein deficiency Occurrence True Congenital Inferred relationship Some 2
Split spinal cord malformation type I Occurrence True Congenital Inferred relationship Some 1
Split spinal cord malformation type I Occurrence True Congenital Inferred relationship Some 2
Split spinal cord malformation type I Occurrence True Congenital Inferred relationship Some 3
Ehlers-Danlos syndrome, hydroxylysine-deficient Occurrence True Congenital Inferred relationship Some 4
Ehlers-Danlos syndrome kyphoscoliotic type Occurrence True Congenital Inferred relationship Some 4
Mayer Rokitansky Küster Hauser syndrome type 1 Occurrence True Congenital Inferred relationship Some 1
Mayer Rokitansky Küster Hauser syndrome type 1 Occurrence True Congenital Inferred relationship Some 2
Mayer Rokitansky Küster Hauser syndrome type 1 Occurrence True Congenital Inferred relationship Some 3
Symphalangism Cushing type Occurrence True Congenital Inferred relationship Some 1
XK aprosencephaly syndrome Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital instability of hip joints Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital instability of hip joints Occurrence True Congenital Inferred relationship Some 2
Congenital accessory tissue of tricuspid valve Occurrence True Congenital Inferred relationship Some 1
Glycogen storage disease due to muscle beta-enolase deficiency Occurrence True Congenital Inferred relationship Some 1
Fibrous skin tumour of tuberous sclerosis Occurrence True Congenital Inferred relationship Some 6
Hydrocephalus with anomaly of aqueduct of Sylvius Occurrence True Congenital Inferred relationship Some 3
Syndromic X-linked intellectual disability due to JARID1C mutation Occurrence True Congenital Inferred relationship Some 1
N syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital infection caused by Lymphocytic choriomeningitis virus Occurrence True Congenital Inferred relationship Some 2
Generalised peeling skin syndrome Occurrence True Congenital Inferred relationship Some 3
Hereditary skin peeling syndrome Occurrence True Congenital Inferred relationship Some 1
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 Occurrence True Congenital Inferred relationship Some 1
Agenesis of cervical vertebra Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of bone of forearm Occurrence True Congenital Inferred relationship Some 1
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome Occurrence True Congenital Inferred relationship Some 1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 2
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome 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 undermodelling, spondylar dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome Occurrence True Congenital Inferred relationship Some 2
LRP5-related primary osteoporosis Occurrence True Congenital Inferred relationship Some 1
Albinism with deafness syndrome Occurrence True Congenital Inferred relationship Some 2
Craniofrontonasal dysplasia 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 ageing, short stature, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 5
RERE-related neurodevelopmental syndrome Occurrence True Congenital Inferred relationship Some 1
TELO2-related intellectual disability, neurodevelopmental disorder Occurrence True Congenital Inferred relationship Some 1
TELO2-related intellectual disability, neurodevelopmental 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 Occurrence False Congenital Inferred relationship Some 2

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Reference Sets

Qualifier value foundation reference set

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