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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
X-linked pure hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Existential restriction modifier 2
X-linked pure hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Congenital lethal erythroderma Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Gaucher disease with ophthalmoplegia and cardiovascular calcification Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Generalized congenital lipodystrophy with myopathy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital interstitial cell of Cajal hyperplasia with neuronal intestinal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital interstitial cell of Cajal hyperplasia with neuronal intestinal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Cavernous lymphangioma Occurrence True Congenital Inferred relationship Existential restriction modifier 1
3q29 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
3q13 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal monosomy 6p Occurrence True Congenital Inferred relationship Existential restriction modifier 1
6p22 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Deletion of part of short arm of chromosome 6 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
17q23.1q23.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal monosomy 17q Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Deletion of part of long arm of chromosome 17 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
17q12 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Deletion of part of short arm of chromosome 12 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Deletion of part of short arm of chromosome 12 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Deletion of part of long arm of chromosome 12 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Partial deletion of long arm of chromosome 15 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Partial deletion of long arm of chromosome 15 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Distal monosomy 15q syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
15q14 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microdeletion of chromosome 15q13.3 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Microdeletion of chromosome 15q24 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Tetrasomy 15q Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Angelman syndrome due to maternal monosomy 15q11q13 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Angelman syndrome due to maternal monosomy 15q11q13 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Partial duplication of long arm of chromosome 15 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Partial duplication of long arm of chromosome 15 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
15q13.3 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
15q11q13 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital abnormality of right atrioventricular valve papillary muscle Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital fusion of right atrioventricular valve papillary muscles Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital hypoplastic right atrioventricular valve papillary muscle Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital parachute malformation of left atrioventricular valve Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital fusion of left atrioventricular valve papillary muscles Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital hypoplastic left atrioventricular valve papillary muscle Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Deletion of part of long arm of chromosome 16 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Deletion of part of long arm of chromosome 16 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
16q24.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Proximal deletion of long arm of chromosome 16 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Chromosome 16p11.2 deletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Duplication of part of short arm of chromosome 16 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Duplication of part of short arm of chromosome 16 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Proximal 16p11.2 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
16p13.11 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
16p13.3 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
16p11.2p12.2 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Duplication of part of long arm of chromosome 16 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Duplication of part of long arm of chromosome 16 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Distal trisomy 16q Occurrence True Congenital Inferred relationship Existential restriction modifier 2
2q24 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Deletion of part of long arm of chromosome 2 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
2q31.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
2q32q33 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
2p15p16.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
2p21 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Deletion of part of short arm of chromosome 2 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mutilating keratoderma Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Natal teeth Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Tetrasomy 12p syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Mosaic trisomy 8 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Blepharophimosis epicanthus inversus ptosis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Blepharophimosis epicanthus inversus ptosis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Blepharophimosis epicanthus inversus ptosis syndrome plus Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Congenital mixed conductive and sensorineural hearing loss Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Trisomy 13 - mitotic nondisjunction mosaicism Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Trisomy 18 - mitotic nondisjunction mosaicism Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Nonfenestrated interatrial communication within oval fossa Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Palmoplantar hyperkeratosis sclerodactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Dyshormonogenetic goiter AND iodide leak Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Familial dyshormonogenetic goiter Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Dyshormonogenic goiter Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked oligodontia Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Camptodactyly of finger Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital fecal incontinence Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hereditary congenital prekallikrein deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Split spinal cord malformation type I Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Split spinal cord malformation type I Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Split spinal cord malformation type I Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Ehlers-Danlos syndrome, hydroxylysine-deficient Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Ehlers-Danlos syndrome kyphoscoliotic type Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Mayer Rokitansky Küster Hauser syndrome type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mayer Rokitansky Küster Hauser syndrome type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Mayer Rokitansky Küster Hauser syndrome type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Proximal interphalangeal joint symphalangism Cushing type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
XK aprosencephaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital instability of bilateral hip joints Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital instability of bilateral hip joints Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital accessory tissue of tricuspid valve Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Glycogen storage disease due to muscle beta-enolase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Fibrous skin tumor of tuberous sclerosis Occurrence True Congenital Inferred relationship Existential restriction modifier 6
Hydrocephalus with anomaly of aqueduct of Sylvius Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
N syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital infection caused by Lymphocytic choriomeningitis virus Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Generalized peeling skin syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Hereditary skin peeling syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Acral peeling skin syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1

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