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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
135131000052119 medfödd sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


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
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Amaurosis hypertrichosis syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Amaurosis hypertrichosis syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Angel-shaped phalangoepiphyseal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Brain calcification Rajab type (disorder) Occurrence False Congenital Inferred relationship Some 5
Ankylosing vertebral hyperostosis with tylosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Holt-Oram syndrome Occurrence True Congenital Inferred relationship Some 1
Choroideremia with deafness and obesity syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Chudley-Lowry-Hoars syndrom Occurrence False Congenital Inferred relationship Some 1
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Occurrence False Congenital Inferred relationship Some 8
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Occurrence False Congenital Inferred relationship Some 9
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Occurrence False Congenital Inferred relationship Some 10
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Occurrence False Congenital Inferred relationship Some 11
Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Ehlers-Danlos syndrome progeroid type (disorder) Occurrence True Congenital Inferred relationship Some 3
Ehlers-Danlos syndrome progeroid type (disorder) Occurrence False Congenital Inferred relationship Some 4
Fine Lubinsky syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Fine Lubinsky syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Hair defect with photosensitivity and intellectual disability syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Hall Riggs syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Hall Riggs syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Hall Riggs syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Heart defect and limb shortening syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Heart defect and limb shortening syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Heart defect and limb shortening syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Heart-hand syndrome type 2 (disorder) Occurrence True Congenital Inferred relationship Some 2
Heart-hand syndrome type 2 (disorder) Occurrence False Congenital Inferred relationship Some 3
Heart-hand syndrome type 3 (disorder) Occurrence False Congenital Inferred relationship Some 4
Heart-hand syndrome type 3 (disorder) Occurrence False Congenital Inferred relationship Some 5
Heart-hand syndrome type 3 (disorder) Occurrence False Congenital Inferred relationship Some 6
Heart-hand syndrome Slovenian type (disorder) Occurrence True Congenital Inferred relationship Some 3
Heart-hand syndrome Slovenian type (disorder) Occurrence False Congenital Inferred relationship Some 4
Heart-hand syndrome Slovenian type (disorder) Occurrence False Congenital Inferred relationship Some 5
Postaxial polydactyly and intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Postaxial polydactyly and intellectual disability syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Short fifth metacarpal insulin resistance syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Short stature with webbed neck and congenital heart disease syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Short stature with webbed neck and congenital heart disease syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Short stature with webbed neck and congenital heart disease syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Short tarsus with absence of lower eyelashes syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Short tarsus with absence of lower eyelashes syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Dacryocystitis and osteopoikilosis syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Dacryocystitis and osteopoikilosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Lymphedema hypoparathyroidism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Lymphedema hypoparathyroidism syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Deaf blind hypopigmentation syndrome Yemenite type (disorder) Occurrence False Congenital Inferred relationship Some 3
Deaf blind hypopigmentation syndrome Yemenite type (disorder) Occurrence False Congenital Inferred relationship Some 4
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 8
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 10
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) Occurrence False Congenital Inferred relationship Some 8
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) Occurrence False Congenital Inferred relationship Some 9
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) Occurrence False Congenital Inferred relationship Some 10
Deafness and intellectual disability Martin Probst type syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Dermo-odonto dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 2
Dermo-odonto dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 3
Developmental malformation, deafness, dystonia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Diaphanospondylodysostosis (disorder) Occurrence False Congenital Inferred relationship Some 2
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Hydrolethalus syndrome (disorder) Occurrence False Congenital Inferred relationship Some 2
Congenital dilatation of aortic root (disorder) Occurrence True Congenital Inferred relationship Some 1
medfött triggerfinger och medfödd triggertumme Occurrence False Congenital Inferred relationship Some 1
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Congenital malformation of tongue, mouth and pharynx Occurrence True Congenital Inferred relationship Some 1
Congenital absence of pelvis and lower limb Occurrence False Congenital Inferred relationship Some 3
Aplasia of fibula and ectrodactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Aplasia of fibula and ectrodactyly syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Aplasia of fibula and ectrodactyly syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Dermatoosteolysis Kirghizian type (disorder) Occurrence True Congenital Inferred relationship Some 3
Dermatoosteolysis Kirghizian type (disorder) Occurrence True Congenital Inferred relationship Some 4
Dermatoosteolysis Kirghizian type (disorder) Occurrence True Congenital Inferred relationship Some 5
Siegler Brewer Carey syndrome (disorder) Occurrence False Congenital Inferred relationship Some 2
Congenital ectropion Occurrence False Congenital Inferred relationship Some 1
Cleft palate with cleft lip Occurrence True Congenital Inferred relationship Some 1
Cheilognathoschisis Occurrence False Congenital Inferred relationship Some 3
Cheilognathoprosoposchisis Occurrence True Congenital Inferred relationship Some 2
Oromandibular-limb hypogenesis spectrum Occurrence False Congenital Inferred relationship Some 6
partiellt bilateralt kluven gom med kluven läpp Occurrence False Congenital Inferred relationship Some 3

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