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255399007: Congenital (qualifier value)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Entire term case insensitive SNOMED CT core module
380599019 Congenita en Synonym Active Entire term case insensitive SNOMED CT core module
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group
Oligohydramnios sequence Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oligohydramnios sequence Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital negative ulnar variant of wrist Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ectopia lentis et pupillae Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ectopia lentis et pupillae Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital cataract Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Simple syndactyly of toes of right foot Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Simple syndactyly of toes of left foot Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Peripheral congenital arteriovenous aneurysm Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Acheiropodia Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Acheiropodia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Acheiropodia Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Acheiropodia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital abnormal fusion of femur Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital cubitus valgus Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital rearfoot valgus Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital forefoot valgus Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital cubitus varus Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Metatarsus primus varus Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Genu recurvatum and long leg bone bowing Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital cleft of posterior cricoid cartilage Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital cleft thyroid cartilage Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Triphalangeal thumbs with onychodystrophy Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital onychauxis Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Nail dystrophy due to Darier's disease Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Fronto-frontal dysostosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cherubism with gingival fibromatosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive spastic paraplegia type 69 Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Autosomal recessive spastic paraplegia type 69 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Distal trisomy 18q Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal trisomy 18q Occurrence True Congenital Inferred relationship Existential restriction modifier 2
X-linked osteoporosis with fractures Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intermandibular dysostosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Oculodento-osseous dysplasia - mild type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oculodento-osseous dysplasia - severe type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal monosomy 4q Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal monosomy 4q Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Autosomal recessive spastic paraplegia type 60 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive spastic paraplegia type 60 Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Xp22.13p22.2 duplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Xp22.13p22.2 duplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital inguinal hernia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oculoauriculofrontonasal syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oculoauriculofrontonasal syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Brachydactyly, short stature, retinitis pigmentosa syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital pseudoarthrosis of limb Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Internasal dysostosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Autosomal recessive spastic paraplegia type 71 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Chondrodysplasia with joint dislocations gPAPP type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Maxillo-zygomatic dysostosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Dysplasia of eye Occurrence True Congenital Inferred relationship Existential restriction modifier 1
10q22.3q23.3 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
10q22.3q23.3 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Familial congenital palsy of trochlear nerve Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hajdu-Cheney syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Male emopamil-binding protein disorder with neurological defect Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Male emopamil-binding protein disorder with neurological defect Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Autosomal recessive spastic paraplegia type 66 Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Autosomal recessive spastic paraplegia type 66 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive spondylometaphyseal dysplasia Megarbane type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital atresia of ostium of coronary artery Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Non-distal monosomy 12q Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Non-distal monosomy 12q Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Bilateral congenital primary hydronephrosis Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Marfanoid habitus, inguinal hernia, advanced bone age syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Marfanoid habitus, inguinal hernia, advanced bone age syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Marfanoid habitus, inguinal hernia, advanced bone age syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Marfanoid habitus, inguinal hernia, advanced bone age syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Regional odontodysplasia Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Spondyloepimetaphyseal dysplasia Isidor type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital muscular dystrophy with intellectual disability and severe epilepsy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital muscular dystrophy with intellectual disability and severe epilepsy Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Autosomal spastic paraplegia type 72 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Severe intellectual disability, progressive spastic diplegia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Shell teeth Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Familial x-linked hypophosphatemic vitamin D refractory rickets Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal monosomy 7p syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Distal monosomy 7p syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cerebellar cortical dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant spastic paraplegia type 3 Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Autosomal dominant spastic paraplegia type 3 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Inherited congenital spastic tetraplegia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Inherited congenital spastic tetraplegia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Occipital pachygyria and polymicrogyria Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Occipital pachygyria and polymicrogyria Occurrence True Congenital Inferred relationship Existential restriction modifier 2

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