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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
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence False Congenital Inferred relationship Some 8
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence False Congenital Inferred relationship Some 9
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence False Congenital Inferred relationship Some 10
Ehlers-Danlos syndrome musculocontractural type Occurrence True Congenital Inferred relationship Some 4
Ehlers-Danlos syndrome musculocontractural type Occurrence False Congenital Inferred relationship Some 5
Ehlers-Danlos syndrome musculocontractural type Occurrence True Congenital Inferred relationship Some 6
Ehlers-Danlos syndrome musculocontractural type Occurrence False Congenital Inferred relationship Some 7
Ehlers-Danlos syndrome vascular-like type Occurrence False Congenital Inferred relationship Some 3
Ehlers-Danlos syndrome vascular-like type Occurrence False Congenital Inferred relationship Some 4
Ehlers-Danlos syndrome vascular-like type Occurrence False Congenital Inferred relationship Some 5
Eiken syndrome Occurrence False Congenital Inferred relationship Some 4
Encephalopathy due to prosaposin deficiency Occurrence True Congenital Inferred relationship Some 1
ALG1 congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
Fibular dimelia diplopodia syndrome Occurrence True Congenital Inferred relationship Some 2
Fibular dimelia diplopodia syndrome Occurrence False Congenital Inferred relationship Some 3
Filippi syndrome Occurrence True Congenital Inferred relationship Some 4
Filippi syndrome Occurrence False Congenital Inferred relationship Some 5
Filippi syndrome Occurrence False Congenital Inferred relationship Some 6
Filippi syndrome Occurrence False Congenital Inferred relationship Some 7
Fountain syndrome Occurrence True Congenital Inferred relationship Some 3
Fountain syndrome Occurrence False Congenital Inferred relationship Some 4
Frank-Ter Haar syndrome Occurrence True Congenital Inferred relationship Some 3
Frank-Ter Haar syndrome Occurrence False Congenital Inferred relationship Some 4
Frank-Ter Haar syndrome Occurrence False Congenital Inferred relationship Some 5
ALG3 congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
ALG8 congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
ALG9 congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
Alopecia, contracture, dwarfism, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 4
Alopecia, contracture, dwarfism, intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 5
Alopecia, contracture, dwarfism, intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 6
Alopecia, contracture, dwarfism, intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 7
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 4
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 5
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome Occurrence False Congenital Inferred relationship Some 3
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome Occurrence False Congenital Inferred relationship Some 4
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome Occurrence False Congenital Inferred relationship Some 5
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome Occurrence False Congenital Inferred relationship Some 6
Amaurosis hypertrichosis syndrome Occurrence False Congenital Inferred relationship Some 3
Amaurosis hypertrichosis syndrome Occurrence False Congenital Inferred relationship Some 4
Angel-shaped phalangoepiphyseal dysplasia Occurrence True Congenital Inferred relationship Some 1
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome Occurrence False Congenital Inferred relationship Some 5
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome Occurrence False Congenital Inferred relationship Some 6
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome Occurrence False Congenital Inferred relationship Some 7
Aniridia, ptosis, intellectual disability, familial obesity syndrome Occurrence True Congenital Inferred relationship Some 1
Brain calcification Rajab type Occurrence False Congenital Inferred relationship Some 5
Ankylosing vertebral hyperostosis with tylosis syndrome Occurrence True Congenital Inferred relationship Some 4
Congenital agenesis of brainstem nuclei Occurrence False Congenital Inferred relationship Some
Leucodystrophy without a known biochemical basis Occurrence False Congenital Inferred relationship Some
Congenital nystagmus with sensory abnormality Occurrence False Congenital Inferred relationship Some
Congenital nystagmus without sensory abnormality Occurrence False Congenital Inferred relationship Some
Brachydactyly of hand Occurrence False Congenital Inferred relationship Some
Synbrachydactyly of hand Occurrence False Congenital Inferred relationship Some
Brachyphalangia of toe Occurrence False Congenital Inferred relationship Some
Total congenital alopecia Occurrence False Congenital Inferred relationship Some
Aberrant retro-esophageal subclavian artery causing dysphagia Occurrence False Congenital Inferred relationship Some
Congenital penoscrotal transposition Occurrence False Congenital Inferred relationship Some
Netherton's syndrome Occurrence False Congenital Inferred relationship Some
Disorder of thoracic aorta Occurrence False Congenital Inferred relationship Some
Holt-Oram syndrome Occurrence True Congenital Inferred relationship Some 1
Choroideraemia with deafness and obesity syndrome Occurrence False Congenital Inferred relationship Some 5
Chudley Lowry Hoar syndrome Occurrence False Congenital Inferred relationship Some 1
CLAPO syndrome Occurrence True Congenital Inferred relationship Some 4
CLAPO syndrome Occurrence False Congenital Inferred relationship Some 5
CLAPO syndrome Occurrence False Congenital Inferred relationship Some 6
CLAPO syndrome Occurrence False Congenital Inferred relationship Some 7
Cloverleaf skull with multiple congenital anomalies syndrome Occurrence False Congenital Inferred relationship Some 6
Cloverleaf skull with multiple congenital anomalies syndrome Occurrence False Congenital Inferred relationship Some 7
Cloverleaf skull with multiple congenital anomalies syndrome Occurrence False Congenital Inferred relationship Some 8
Cloverleaf skull with multiple congenital anomalies syndrome Occurrence False Congenital Inferred relationship Some 9
Cloverleaf skull with multiple congenital anomalies syndrome Occurrence False Congenital Inferred relationship Some 10
Cloverleaf skull with multiple congenital anomalies syndrome Occurrence False Congenital Inferred relationship Some 11
CODAS syndrome Occurrence True Congenital Inferred relationship Some 1
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Occurrence True Congenital Inferred relationship Some 1
Ehlers-Danlos syndrome progeroid type Occurrence True Congenital Inferred relationship Some 3
Ehlers-Danlos syndrome progeroid type Occurrence False Congenital Inferred relationship Some 4
Fine Lubinsky syndrome Occurrence False Congenital Inferred relationship Some 4
Fine Lubinsky syndrome Occurrence False Congenital Inferred relationship Some 5
Hair defect with photosensitivity and intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 3
Hall Riggs syndrome Occurrence False Congenital Inferred relationship Some 4
Hall Riggs syndrome Occurrence False Congenital Inferred relationship Some 5
Hall Riggs syndrome Occurrence False Congenital Inferred relationship Some 6
Heart defect and limb shortening syndrome Occurrence True Congenital Inferred relationship Some 3
Heart defect and limb shortening syndrome Occurrence False Congenital Inferred relationship Some 4
Heart defect and limb shortening syndrome Occurrence False Congenital Inferred relationship Some 5
Heart-hand syndrome type 2 Occurrence True Congenital Inferred relationship Some 2
Heart-hand syndrome type 2 Occurrence False Congenital Inferred relationship Some 3
Heart-hand syndrome type 3 Occurrence False Congenital Inferred relationship Some 4
Heart-hand syndrome type 3 Occurrence False Congenital Inferred relationship Some 5
Heart-hand syndrome type 3 Occurrence False Congenital Inferred relationship Some 6
Heart-hand syndrome Slovenian type Occurrence True Congenital Inferred relationship Some 3
Heart-hand syndrome Slovenian type Occurrence False Congenital Inferred relationship Some 4
Heart-hand syndrome Slovenian type Occurrence False Congenital Inferred relationship Some 5
Oliver syndrome Occurrence True Congenital Inferred relationship Some 2
Oliver syndrome Occurrence False Congenital Inferred relationship Some 3
Short fifth metacarpal insulin resistance syndrome Occurrence True Congenital Inferred relationship Some 1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome Occurrence True Congenital Inferred relationship Some 2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome Occurrence False Congenital Inferred relationship Some 3
Short stature with webbed neck and congenital heart disease syndrome Occurrence True Congenital Inferred relationship Some 3
Short stature with webbed neck and congenital heart disease syndrome Occurrence False Congenital Inferred relationship Some 4
Short stature with webbed neck and congenital heart disease syndrome Occurrence False Congenital Inferred relationship Some 5
Short tarsus with absence of lower eyelashes syndrome Occurrence True Congenital Inferred relationship Some 2

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Reference Sets

Qualifier value foundation reference set

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