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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
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome Occurrence True Congenital Inferred relationship Some 3
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome Occurrence True Congenital Inferred relationship Some 4
Congenital erosive and vesicular dermatosis Occurrence True Congenital Inferred relationship Some 1
Congenital erosive and vesicular dermatosis Occurrence True Congenital Inferred relationship Some 2
Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 2
Porencephaly, microcephaly, bilateral congenital cataract syndrome Occurrence True Congenital Inferred relationship Some 3
Porencephaly, microcephaly, bilateral congenital cataract syndrome Occurrence True Congenital Inferred relationship Some 1
Porencephaly, microcephaly, bilateral congenital cataract syndrome Occurrence True Congenital Inferred relationship Some 2
Microstomia Occurrence True Congenital Inferred relationship Some 1
Spondylo-megaepiphyseal-metaphyseal dysplasia Occurrence True Congenital Inferred relationship Some 1
Pitt Hopkins-like syndrome Occurrence False Congenital Inferred relationship Some 1
Pitt Hopkins-like syndrome Occurrence False Congenital Inferred relationship Some 2
Kernicterus of newborn NOS Occurrence False Congenital Inferred relationship Some
Humeroradioulnar synostosis Occurrence True Congenital Inferred relationship Some 1
Humeroradioulnar synostosis Occurrence True Congenital Inferred relationship Some 3
Humeroradioulnar synostosis Occurrence True Congenital Inferred relationship Some 2
Sterile multifocal osteomyelitis with periostitis and pustulosis Occurrence True Congenital Inferred relationship Some 2
Sterile multifocal osteomyelitis with periostitis and pustulosis Occurrence True Congenital Inferred relationship Some 1
Emery Nelson syndrome Occurrence True Congenital Inferred relationship Some 2
Emery Nelson syndrome Occurrence True Congenital Inferred relationship Some 1
Ataxia, photosensitivity, short stature syndrome Occurrence True Congenital Inferred relationship Some 1
Ankyloblepharon filiforme adnatum with imperforate anus syndrome Occurrence True Congenital Inferred relationship Some 1
Ankyloblepharon filiforme adnatum with imperforate anus syndrome Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital malformation of ears Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital malformation of ears Occurrence True Congenital Inferred relationship Some 1
[X]Other congenital viral diseases Occurrence False Congenital Inferred relationship Some
[X]Other congenital malaria Occurrence False Congenital Inferred relationship Some
Bilateral accessory navicular bones Occurrence True Congenital Inferred relationship Some 1
Bilateral accessory navicular bones Occurrence True Congenital Inferred relationship Some 2
[X]Congenital viral disease, unspecified Occurrence False Congenital Inferred relationship Some
Extrapulmonary subpleural pulmonary sequestration Occurrence True Congenital Inferred relationship Some 1
Single left ventricle Occurrence True Congenital Inferred relationship Some 1
Leri-Weill dyschondrosteosis Occurrence True Congenital Inferred relationship Some 1
DOORS syndrome Occurrence True Congenital Inferred relationship Some 5
Cranioectodermal dysplasia Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta with blue sclerae AND normal teeth Occurrence True Congenital Inferred relationship Some 1
Naso-maxillary dysostosis Occurrence True Congenital Inferred relationship Some 1
Spigelian hernia with cryptorchidism syndrome Occurrence True Congenital Inferred relationship Some 1
Spigelian hernia with cryptorchidism syndrome Occurrence True Congenital Inferred relationship Some 2
Spigelian hernia with cryptorchidism syndrome Occurrence True Congenital Inferred relationship Some 3
Single right ventricle Occurrence True Congenital Inferred relationship Some 1
Lumbarised first sacral vertebra Occurrence True Congenital Inferred relationship Some 1
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Occurrence True Congenital Inferred relationship Some 3
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Occurrence True Congenital Inferred relationship Some 2
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Occurrence True Congenital Inferred relationship Some 1
[X]Other specified kernicterus Occurrence False Congenital Inferred relationship Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Occurrence True Congenital Inferred relationship Some 4
Sacralisation of fifth lumbar vertebra Occurrence True Congenital Inferred relationship Some 1
NPHP3-related Meckel-like syndrome Occurrence True Congenital Inferred relationship Some 3
NPHP3-related Meckel-like syndrome Occurrence True Congenital Inferred relationship Some 1
NPHP3-related Meckel-like syndrome Occurrence True Congenital Inferred relationship Some 2
Bilateral accessory ribs Occurrence True Congenital Inferred relationship Some 2
Bilateral accessory ribs Occurrence True Congenital Inferred relationship Some 1
Deafness with onychodystrophy syndrome Occurrence True Congenital Inferred relationship Some 1
Deafness with onychodystrophy syndrome Occurrence True Congenital Inferred relationship Some 2
Deafness with onychodystrophy syndrome Occurrence True Congenital Inferred relationship Some 3
Deafness with onychodystrophy syndrome Occurrence False Congenital Inferred relationship Some 4
Congenital cataract, hearing loss, severe developmental delay syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital cataract, hearing loss, severe developmental delay syndrome Occurrence True Congenital Inferred relationship Some 3
Congenital cataract, hearing loss, severe developmental delay syndrome Occurrence True Congenital Inferred relationship Some 2
Osteopetrosis hypogammaglobulinaemia syndrome Occurrence True Congenital Inferred relationship Some 1
Osteopetrosis hypogammaglobulinaemia syndrome Occurrence True Congenital Inferred relationship Some 2
Fronto-naso-ethmoidal dysostosis Occurrence True Congenital Inferred relationship Some 1
Myelocele with hydrocephalus Occurrence True Congenital Inferred relationship Some 4
Myelocele with hydrocephalus Occurrence True Congenital Inferred relationship Some 1
[X]Other congenital anemias, not elsewhere classified Occurrence False Congenital Inferred relationship Some
Interfrontal craniofaciosynostosis Occurrence True Congenital Inferred relationship Some 1
Polycoria Occurrence True Congenital Inferred relationship Some 1
Spheno-frontal dysostosis Occurrence True Congenital Inferred relationship Some 1
Jackson's membrane Occurrence True Congenital Inferred relationship Some 1
Capitate-hamate synostosis Occurrence True Congenital Inferred relationship Some 1
Sacralisation of lumbar vertebra Occurrence True Congenital Inferred relationship Some 1
Anomalous pulmonary venous drainage to superior vena cava Occurrence True Congenital Inferred relationship Some 1
Madelung's deformity Occurrence True Congenital Inferred relationship Some 1
Temporo-aural dysostosis Occurrence True Congenital Inferred relationship Some 1
Scaphoid-lunate synostosis Occurrence True Congenital Inferred relationship Some 1
Bilateral radioulnar synostosis of upper limbs Occurrence True Congenital Inferred relationship Some 1
Bilateral radioulnar synostosis of upper limbs Occurrence True Congenital Inferred relationship Some 2
AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 2
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Occurrence True Congenital Inferred relationship Some 2
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Occurrence True Congenital Inferred relationship Some 2
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Occurrence True Congenital Inferred relationship Some 3
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome Occurrence True Congenital Inferred relationship Some 1
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome Occurrence True Congenital Inferred relationship Some 2
Pancytopenia with developmental delay syndrome Occurrence True Congenital Inferred relationship Some 1
Piebald trait with neurologic defects syndrome Occurrence True Congenital Inferred relationship Some 1
Peripheral dysostosis Occurrence True Congenital Inferred relationship Some 1
Polyglucosan body myopathy type 1 Occurrence True Congenital Inferred relationship Some 3
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Occurrence True Congenital Inferred relationship Some 1
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Occurrence True Congenital Inferred relationship Some 2
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Occurrence True Congenital Inferred relationship Some 3
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Occurrence True Congenital Inferred relationship Some 4
Progeroid and marfanoid aspect, lipodystrophy syndrome Occurrence True Congenital Inferred relationship Some 3
Progeroid and marfanoid aspect, lipodystrophy syndrome Occurrence True Congenital Inferred relationship Some 1
Progeroid and marfanoid aspect, lipodystrophy syndrome Occurrence True Congenital Inferred relationship Some 2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Some 2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Some 1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Some 3

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Reference Sets

Qualifier value foundation reference set

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