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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
7178481000172112 aangeboren nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
7178491000172110 congenitaal nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian 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
Oligohydramnios sequence Occurrence True Congenital Inferred relationship Some 1
Oligohydramnios sequence Occurrence True Congenital Inferred relationship Some 2
Congenital negative ulnar variant of wrist (disorder) Occurrence True Congenital Inferred relationship Some 1
Ectopia lentis et pupillae (disorder) Occurrence True Congenital Inferred relationship Some 1
Ectopia lentis et pupillae (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital cataract Occurrence True Congenital Inferred relationship Some 1
Simple syndactyly of toes of right foot Occurrence True Congenital Inferred relationship Some 1
Simple syndactyly of toes of left foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Peripheral congenital arteriovenous aneurysm Occurrence True Congenital Inferred relationship Some 1
Acheiropodia Occurrence True Congenital Inferred relationship Some 3
Acheiropodia Occurrence True Congenital Inferred relationship Some 1
Acheiropodia Occurrence True Congenital Inferred relationship Some 4
Acheiropodia Occurrence True Congenital Inferred relationship Some 2
Congenital abnormal fusion of femur Occurrence True Congenital Inferred relationship Some 1
Congenital cubitus valgus Occurrence True Congenital Inferred relationship Some 1
Congenital rearfoot valgus Occurrence True Congenital Inferred relationship Some 1
Congenital forefoot valgus Occurrence True Congenital Inferred relationship Some 1
Congenital cubitus varus Occurrence True Congenital Inferred relationship Some 1
Metatarsus primus varus Occurrence True Congenital Inferred relationship Some 1
Genu recurvatum and long leg bone bowing Occurrence True Congenital Inferred relationship Some 1
Congenital cleft of posterior cricoid cartilage Occurrence True Congenital Inferred relationship Some 1
Congenital cleft thyroid cartilage (disorder) Occurrence True Congenital Inferred relationship Some 1
Triphalangeal thumbs with onychodystrophy Occurrence False Congenital Inferred relationship Some 2
Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital onychauxis Occurrence False Congenital Inferred relationship Some 2
Nail dystrophy due to Darier's disease (disorder) Occurrence True Congenital Inferred relationship Some 2
Fronto-frontal dysostosis Occurrence True Congenital Inferred relationship Some 1
Cherubism with gingival fibromatosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 69 Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 69 Occurrence False Congenital Inferred relationship Some 1
Distal trisomy 18q Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 18q Occurrence True Congenital Inferred relationship Some 2
X-linked osteoporosis with fractures Occurrence True Congenital Inferred relationship Some 1
Intermandibular dysostosis Occurrence True Congenital Inferred relationship Some 1
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Oculodento-osseous dysplasia - mild type Occurrence True Congenital Inferred relationship Some 1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Oculodento-osseous dysplasia - severe type Occurrence True Congenital Inferred relationship Some 1
Distal monosomy 4q Occurrence True Congenital Inferred relationship Some 1
Distal monosomy 4q Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 60 Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 60 Occurrence False Congenital Inferred relationship Some 2
Xp22.13p22.2 duplication syndrome Occurrence True Congenital Inferred relationship Some 1
Xp22.13p22.2 duplication syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital inguinal hernia (disorder) Occurrence True Congenital Inferred relationship Some 2
Oculoauriculofrontonasal syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Oculoauriculofrontonasal syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital pseudoarthrosis of limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Internasal dysostosis Occurrence True Congenital Inferred relationship Some 1
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Occurrence True Congenital Inferred relationship Some 3
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Occurrence True Congenital Inferred relationship Some 1
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 71 Occurrence False Congenital Inferred relationship Some 1
Chondrodysplasia with joint dislocations gPAPP type (disorder) Occurrence True Congenital Inferred relationship Some 1
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Maxillo-zygomatic dysostosis Occurrence True Congenital Inferred relationship Some 1
Dysplasia of eye (disorder) Occurrence True Congenital Inferred relationship Some 1
10q22.3q23.3 microduplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
10q22.3q23.3 microduplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Familial congenital palsy of trochlear nerve (disorder) Occurrence True Congenital Inferred relationship Some 1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Hajdu-Cheney syndrome Occurrence True Congenital Inferred relationship Some 1
Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Male emopamil-binding protein disorder with neurological defect Occurrence True Congenital Inferred relationship Some 1
Male emopamil-binding protein disorder with neurological defect Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 66 Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 66 Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital atresia of coronary ostium Occurrence True Congenital Inferred relationship Some 1
Non-distal monosomy 12q Occurrence True Congenital Inferred relationship Some 1
Non-distal monosomy 12q Occurrence True Congenital Inferred relationship Some 2
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital primary hydronephrosis (disorder) Occurrence False Congenital Inferred relationship Some 2
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Regional odontodysplasia Occurrence False Congenital Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia Isidor type (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy with intellectual disability and severe epilepsy Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy with intellectual disability and severe epilepsy Occurrence True Congenital Inferred relationship Some 2
Autosomal spastic paraplegia type 72 Occurrence False Congenital Inferred relationship Some 1
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Shell teeth Occurrence True Congenital Inferred relationship Some 1
Familial x-linked hypophosphatemic vitamin D refractory rickets Occurrence True Congenital Inferred relationship Some 1
Distal monosomy 7p syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal monosomy 7p syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Cerebellar cortical dysplasia Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 3 (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 3 (disorder) Occurrence False Congenital Inferred relationship Some 1
Inherited congenital spastic tetraplegia Occurrence True Congenital Inferred relationship Some 2
Inherited congenital spastic tetraplegia Occurrence True Congenital Inferred relationship Some 1
Occipital pachygyria and polymicrogyria (disorder) Occurrence True Congenital Inferred relationship Some 1
Occipital pachygyria and polymicrogyria (disorder) Occurrence True Congenital Inferred relationship Some 2

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