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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
Thoracic insufficiency syndrome Occurrence False Congenital Inferred relationship Some 3
Adult polyglucosan body disease Occurrence True Congenital Inferred relationship Some 1
COG5 congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
Klippel Trenaunay syndrome Occurrence False Congenital Inferred relationship Some 3
Joubert syndrome with oculorenal defect Occurrence False Congenital Inferred relationship Some 4
Congenital cerebral ventriculomegaly Occurrence True Congenital Inferred relationship Some 1
Strangulated paraumbilical hernia Occurrence False Congenital Inferred relationship Some
Megalencephaly-capillary malformation syndrome Occurrence False Congenital Inferred relationship Some 1
Megalencephalic leukoencephalopathy with subcortical cysts Occurrence True Congenital Inferred relationship Some 1
Reardon Hall Slaney syndrome Occurrence True Congenital Inferred relationship Some 1
Multiple epiphyseal dysplasia type 4 Occurrence True Congenital Inferred relationship Some 1
Multiple epiphyseal dysplasia type 1 Occurrence True Congenital Inferred relationship Some 1
Multiple epiphyseal dysplasia type 5 Occurrence True Congenital Inferred relationship Some 1
Brachydactyly type A1 Occurrence False Congenital Inferred relationship Some 2
Unilateral polymicrogyria Occurrence True Congenital Inferred relationship Some 1
Blepharocheilodontic syndrome Occurrence True Congenital Inferred relationship Some 2
Blepharocheilodontic syndrome Occurrence False Congenital Inferred relationship Some 3
Spondyloepiphyseal dysplasia Nishimura type Occurrence False Congenital Inferred relationship Some 5
Multiple epiphyseal dysplasia Al-Gazali type Occurrence False Congenital Inferred relationship Some 2
Multiple epiphyseal dysplasia Beighton type Occurrence False Congenital Inferred relationship Some 2
Eiken syndrome Occurrence False Congenital Inferred relationship Some 3
Hip dysplasia Beukes type Occurrence False Congenital Inferred relationship Some 3
Long gap oesophageal atresia Occurrence True Congenital Inferred relationship Some 1
Congenital diverticulitis of small intestine Occurrence True Congenital Inferred relationship Some 1
Congenital diverticulosis of small intestine Occurrence True Congenital Inferred relationship Some 2
Congenital diverticulosis of small intestine Occurrence False Congenital Inferred relationship Some 3
Hypertelorism with microtia and facial clefting syndrome Occurrence True Congenital Inferred relationship Some 4
Hypertelorism with microtia and facial clefting syndrome Occurrence False Congenital Inferred relationship Some 5
Hypertelorism with microtia and facial clefting syndrome Occurrence False Congenital Inferred relationship Some 6
Hypertelorism with microtia and facial clefting syndrome Occurrence False Congenital Inferred relationship Some 7
Lowry Wood syndrome Occurrence False Congenital Inferred relationship Some 3
Lowry Wood syndrome Occurrence False Congenital Inferred relationship Some 4
Intellectual disability, balding, patella luxation, acromicria syndrome Occurrence False Congenital Inferred relationship Some 5
Intellectual disability, balding, patella luxation, acromicria syndrome Occurrence False Congenital Inferred relationship Some 6
Intellectual disability, balding, patella luxation, acromicria syndrome Occurrence False Congenital Inferred relationship Some 7
Intellectual disability with cataract and kyphosis syndrome Occurrence False Congenital Inferred relationship Some 3
Intellectual disability with cataract and kyphosis syndrome Occurrence False Congenital Inferred relationship Some 4
Agenesis of internal carotid artery Occurrence True Congenital Inferred relationship Some 1
Isotretinoin-like syndrome Occurrence True Congenital Inferred relationship Some 4
Isotretinoin-like syndrome Occurrence False Congenital Inferred relationship Some 5
Isotretinoin-like syndrome Occurrence False Congenital Inferred relationship Some 6
Isotretinoin-like syndrome Occurrence False Congenital Inferred relationship Some 7
Kapur Toriello syndrome Occurrence True Congenital Inferred relationship Some 2
Kapur Toriello syndrome Occurrence True Congenital Inferred relationship Some 3
Karsch Neugebauer syndrome Occurrence True Congenital Inferred relationship Some 5
Karsch Neugebauer syndrome Occurrence False Congenital Inferred relationship Some 6
Karsch Neugebauer syndrome Occurrence False Congenital Inferred relationship Some 7
Karsch Neugebauer syndrome Occurrence False Congenital Inferred relationship Some 8
Karsch Neugebauer syndrome Occurrence False Congenital Inferred relationship Some 9
Macrocephaly, short stature, paraplegia syndrome Occurrence False Congenital Inferred relationship Some 7
Macrocephaly, short stature, paraplegia syndrome Occurrence False Congenital Inferred relationship Some 8
Macrocephaly, short stature, paraplegia syndrome Occurrence False Congenital Inferred relationship Some 10
Median nodule of upper lip Occurrence True Congenital Inferred relationship Some 1
MEDNIK syndrome Occurrence False Congenital Inferred relationship Some 4
MEDNIK syndrome Occurrence False Congenital Inferred relationship Some 5
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome Occurrence True Congenital Inferred relationship Some 3
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome Occurrence False Congenital Inferred relationship Some 4
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome Occurrence False Congenital Inferred relationship Some 5
Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome Occurrence False Congenital Inferred relationship Some 2
Lethal haemolytic anaemia and genital anomaly syndrome Occurrence False Congenital Inferred relationship Some 6
Macrocephaly, short stature, paraplegia syndrome Occurrence False Congenital Inferred relationship Some 12
Persistent hyperplastic primary vitreous Occurrence False Congenital Inferred relationship Some
Congenital nephrotic syndrome due to diffuse mesangial sclerosis Occurrence True Congenital Inferred relationship Some 2
Congenital melanocytic naevus of face Occurrence True Congenital Inferred relationship Some 1
Hypogonadism with anosmia Occurrence True Congenital Inferred relationship Some 3
Isolated anterior cervical hypertrichosis Occurrence False Congenital Inferred relationship Some 2
Klippel Trenaunay syndrome Occurrence True Congenital Inferred relationship Some 2
Johnson neuroectodermal syndrome Occurrence True Congenital Inferred relationship Some 2
Johnson neuroectodermal syndrome Occurrence False Congenital Inferred relationship Some 3
IVIC syndrome Occurrence True Congenital Inferred relationship Some 4
Kallman syndrome with heart disease Occurrence False Congenital Inferred relationship Some 5
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome Occurrence False Congenital Inferred relationship Some 6
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome Occurrence False Congenital Inferred relationship Some 7
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome Occurrence False Congenital Inferred relationship Some 8
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome Occurrence False Congenital Inferred relationship Some 9
Ocular albinism with late-onset sensorineural deafness Occurrence False Congenital Inferred relationship Some 7
Oculo-palato-cerebral syndrome Occurrence True Congenital Inferred relationship Some 3
Oculo-palato-cerebral syndrome Occurrence False Congenital Inferred relationship Some 4
Oculo-palato-cerebral syndrome Occurrence False Congenital Inferred relationship Some 5
Oculocerebrofacial syndrome Kaufman type Occurrence True Congenital Inferred relationship Some 3
Oculocerebrofacial syndrome Kaufman type Occurrence False Congenital Inferred relationship Some 4
Oculocerebrofacial syndrome Kaufman type Occurrence False Congenital Inferred relationship Some 5
Oculocutaneous albinism type 5 Occurrence False Congenital Inferred relationship Some 5
Oculocutaneous albinism type 6 Occurrence False Congenital Inferred relationship Some 5
Oculocutaneous albinism type 7 Occurrence False Congenital Inferred relationship Some 5
Oculoosteocutaneous syndrome Occurrence True Congenital Inferred relationship Some 2
Oculoosteocutaneous syndrome Occurrence True Congenital Inferred relationship Some 3
Oculotrichodysplasia Occurrence True Congenital Inferred relationship Some 3
Oculotrichodysplasia Occurrence True Congenital Inferred relationship Some 4
Oculotrichodysplasia Occurrence True Congenital Inferred relationship Some 5
Odonto-tricho-ungual-digito-palmar syndrome Occurrence True Congenital Inferred relationship Some 3
Odonto-tricho-ungual-digito-palmar syndrome Occurrence False Congenital Inferred relationship Some 4
Odonto-tricho-ungual-digito-palmar syndrome Occurrence False Congenital Inferred relationship Some 5
Okamoto syndrome Occurrence False Congenital Inferred relationship Some 5
Okamoto syndrome Occurrence False Congenital Inferred relationship Some 7
Albinism with deafness syndrome Occurrence False Congenital Inferred relationship Some 6
Albinism with deafness syndrome Occurrence False Congenital Inferred relationship Some 7
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome Occurrence False Congenital Inferred relationship Some 4
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Occurrence False Congenital Inferred relationship Some 2
Book syndrome Occurrence False Congenital Inferred relationship Some 2
Book syndrome Occurrence True Congenital Inferred relationship Some 3

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Reference Sets

Qualifier value foundation reference set

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