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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
Spina bifida occulta Occurrence True Congenital Inferred relationship Some 2
Congenital iris ectropion Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow tract obstruction due to septoparietal trabeculation Occurrence False Congenital Inferred relationship Some 1
Incomplete ossification of calcaneus Occurrence True Congenital Inferred relationship Some 1
Vomero-premaxillary faciosynostosis Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth-nail-sweating defect Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex with pyloric atresia Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex with pyloric atresia Occurrence True Congenital Inferred relationship Some 2
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence True Congenital Inferred relationship Some 4
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence True Congenital Inferred relationship Some 3
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence True Congenital Inferred relationship Some 2
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence True Congenital Inferred relationship Some 1
Posteromedial muscle band Occurrence True Congenital Inferred relationship Some 1
Omphalocele - irreducible Occurrence True Congenital Inferred relationship Some 1
Congenital lobar emphysema Occurrence True Congenital Inferred relationship Some 1
Congenital lobar emphysema Occurrence True Congenital Inferred relationship Some 2
Splenoportal vascular anomaly Occurrence True Congenital Inferred relationship Some 1
Tricho-retino-dento-digital syndrome Occurrence True Congenital Inferred relationship Some 1
Acrocallosal syndrome Occurrence True Congenital Inferred relationship Some 1
Acrocallosal syndrome Occurrence True Congenital Inferred relationship Some 2
Acrodysostosis Occurrence True Congenital Inferred relationship Some 3
Aplasia cutis with myopia syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital bronchobiliary fistula Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of squamosal bone Occurrence True Congenital Inferred relationship Some 1
Congenital disorders of eye and eyelid movements Occurrence False Congenital Inferred relationship Some 1
Bilateral congenital absence of feet Occurrence True Congenital Inferred relationship Some 1
Congenital bronchomalacia Occurrence True Congenital Inferred relationship Some 1
Kozlowski spondylometaphyseal dysplasia Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow tract obstruction due to aneurysm of membranous septum Occurrence False Congenital Inferred relationship Some 1
Achondrogenesis, type IA Occurrence True Congenital Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence True Congenital Inferred relationship Some 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence True Congenital Inferred relationship Some 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence True Congenital Inferred relationship Some 1
X-linked intellectual disability with plagiocephaly syndrome Occurrence True Congenital Inferred relationship Some 2
X-linked intellectual disability with plagiocephaly syndrome Occurrence True Congenital Inferred relationship Some 1
Spondyloepiphyseal dysplasia Cantu type Occurrence True Congenital Inferred relationship Some 2
Spondyloepiphyseal dysplasia Cantu type Occurrence True Congenital Inferred relationship Some 1
Thoracic myelocystocele Occurrence True Congenital Inferred relationship Some 2
Metaphyseal anadysplasia Occurrence True Congenital Inferred relationship Some 1
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type Occurrence True Congenital Inferred relationship Some 1
Temporo-auro-mandibular dysostosis Occurrence True Congenital Inferred relationship Some 1
Generalised dystrophic epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome Occurrence True Congenital Inferred relationship Some 1
Haim Munk syndrome Occurrence True Congenital Inferred relationship Some 1
Book syndrome Occurrence True Congenital Inferred relationship Some 1
Preductal coarctation of aorta Occurrence True Congenital Inferred relationship Some 1
CLAPO syndrome Occurrence True Congenital Inferred relationship Some 2
CLAPO syndrome Occurrence True Congenital Inferred relationship Some 3
CLAPO syndrome Occurrence True Congenital Inferred relationship Some 1
Cranial duplication Occurrence True Congenital Inferred relationship Some 1
Congenital pelvic obliquity Occurrence True Congenital Inferred relationship Some 1
Noonan syndrome-like disorder with loose anagen hair Occurrence True Congenital Inferred relationship Some 1
Papyraceous fetus unspecified Occurrence False Congenital Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair Occurrence True Congenital Inferred relationship Some 2
Pterygium colli with intellectual disability and digital anomaly syndrome Occurrence True Congenital Inferred relationship Some 1
Pterygium colli with intellectual disability and digital anomaly syndrome Occurrence True Congenital Inferred relationship Some 2
Retinal arteriovenous malformation Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow tract obstruction due to malaligned outlet septum Occurrence False Congenital Inferred relationship Some 1
Goldblatt Wallis syndrome Occurrence True Congenital Inferred relationship Some 1
GM1 gangliosidosis Occurrence True Congenital Inferred relationship Some 1
Papyraceous fetus NOS Occurrence False Congenital Inferred relationship Some
Incomplete formation of the bony cochlea Occurrence True Congenital Inferred relationship Some 1
Arteriovenous malformation of frontonasal process Occurrence True Congenital Inferred relationship Some 1
Arteriovenous malformation of frontonasal process Occurrence True Congenital Inferred relationship Some 2
Incomplete ossification of interparietal bone Occurrence True Congenital Inferred relationship Some 1
Congenital uterointestinal fistula Occurrence True Congenital Inferred relationship Some 1
Neonatal cutis laxa with marfanoid phenotype Occurrence True Congenital Inferred relationship Some 1
Horseshoe kidney Occurrence True Congenital Inferred relationship Some 1
McCune Albright syndrome Occurrence True Congenital Inferred relationship Some 3
McCune Albright syndrome Occurrence True Congenital Inferred relationship Some 2
McCune Albright syndrome Occurrence True Congenital Inferred relationship Some 1
C syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital chordee Occurrence True Congenital Inferred relationship Some 1
Bohring Opitz syndrome Occurrence True Congenital Inferred relationship Some 1
Zebra body myopathy Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant palmoplantar keratoderma and congenital alopecia Occurrence True Congenital Inferred relationship Some 1
Mikati Najjar Sahli syndrome Occurrence False Congenital Inferred relationship Some 2
Mikati Najjar Sahli syndrome Occurrence True Congenital Inferred relationship Some 1
Malrotation of colon and caecum Occurrence True Congenital Inferred relationship Some 1
Pai syndrome Occurrence True Congenital Inferred relationship Some 4
Pai syndrome Occurrence True Congenital Inferred relationship Some 3
Pai syndrome Occurrence True Congenital Inferred relationship Some 2
Epilepsy, microcephaly, skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Epilepsy, microcephaly, skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 3
Epilepsy, microcephaly, skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 2
Dysosteosclerosis Occurrence True Congenital Inferred relationship Some 1
Microspherophakia Occurrence True Congenital Inferred relationship Some 1
Microspherophakia Occurrence True Congenital Inferred relationship Some 2
Dumbbell ossification of centrum of thoracic vertebra Occurrence True Congenital Inferred relationship Some 1
Limb mammary syndrome Occurrence True Congenital Inferred relationship Some 1
Limb mammary syndrome Occurrence True Congenital Inferred relationship Some 3
Limb mammary syndrome Occurrence True Congenital Inferred relationship Some 2
Thoracoschisis Occurrence True Congenital Inferred relationship Some 1
Ectopic ureterocele Occurrence False Congenital Inferred relationship Some 2
Vascular malformation of inner ear Occurrence True Congenital Inferred relationship Some 1
Acro-dermato-ungual-lacrimal-tooth syndrome Occurrence True Congenital Inferred relationship Some 2
Acro-dermato-ungual-lacrimal-tooth syndrome Occurrence True Congenital Inferred relationship Some 1
Acro-dermato-ungual-lacrimal-tooth syndrome Occurrence True Congenital Inferred relationship Some 3

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Reference Sets

Qualifier value foundation reference set

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