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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
135131000052119 medfödd sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained 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
Dolichocolon Occurrence True Congenital Inferred relationship Some 1
Triangular alopecia (disorder) Occurrence True Congenital Inferred relationship Some 1
Defect of skull ossification Occurrence True Congenital Inferred relationship Some 1
Accessory sternebral ossification site Occurrence True Congenital Inferred relationship Some 2
Accessory sternebral ossification site Occurrence True Congenital Inferred relationship Some 1
Uhl's disease Occurrence True Congenital Inferred relationship Some 1
Uterus bicameratus vetularum Occurrence True Congenital Inferred relationship Some 1
Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Osteochondrodysplasia with osteopetrosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Spherophakia Occurrence True Congenital Inferred relationship Some 1
Beckwith-Wiedemann syndrome Occurrence True Congenital Inferred relationship Some 2
Ehlers-Danlos syndrome classic type (disorder) Occurrence True Congenital Inferred relationship Some 1
Chondrodysplasia punctata, X-linked dominant type (disorder) Occurrence True Congenital Inferred relationship Some 1
Frontometaphyseal dysplasia Occurrence True Congenital Inferred relationship Some 1
Amaurosis hypertrichosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Amaurosis hypertrichosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta type IIB Occurrence True Congenital Inferred relationship Some 1
Congenital pontocerebellar hypoplasia type 7 (disorder) Occurrence True Congenital Inferred relationship Some 1
Taurodontism Occurrence False Congenital Inferred relationship Some 1
Congenital retinal aneurysm Occurrence True Congenital Inferred relationship Some 1
dyssegmental dysplasi med glaukom Occurrence False Congenital Inferred relationship Some 2
dyssegmental dysplasi med glaukom Occurrence False Congenital Inferred relationship Some 1
Atrioventricular septal defect with common atrioventricular orifice (disorder) Occurrence True Congenital Inferred relationship Some 1
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Craniofacial conodysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Craniofacial conodysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Cheirospondyloenchondromatosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Andersen Tawil syndrome (disorder) Occurrence False Congenital Inferred relationship Some 1
Capra DeMarco syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Capra DeMarco syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Capra DeMarco syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Capra DeMarco syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Double outlet right atrium Occurrence True Congenital Inferred relationship Some 1
Gomez Lopez Hernandez syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Gomez Lopez Hernandez syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Gomez Lopez Hernandez syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Osteoglophonic dysplasia Occurrence True Congenital Inferred relationship Some 1
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital pulmonary lymphatic dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Achondrogenesis, type IB Occurrence True Congenital Inferred relationship Some 1
Hepatic vein to coronary sinus (disorder) Occurrence True Congenital Inferred relationship Some 1
Microcephalic primordial dwarfism of Toriello type (disorder) Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of metacarpal bone Occurrence True Congenital Inferred relationship Some 1
Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Spondylodysplasia, San Diego type Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Dicephalus dipus tetrabrachius (disorder) Occurrence True Congenital Inferred relationship Some 1
Odontotrichomelic syndrome Occurrence True Congenital Inferred relationship Some 2
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Penile hypospadias (disorder) Occurrence True Congenital Inferred relationship Some 1
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Riedel's lobe of liver Occurrence True Congenital Inferred relationship Some 1
Yunis-Varon dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Anodontia Occurrence True Congenital Inferred relationship Some 1
neuroektodermalt endokrint syndrom Occurrence False Congenital Inferred relationship Some 1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Partial anomalous pulmonary venous connection of entire left lung (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital eventration of diaphragm Occurrence True Congenital Inferred relationship Some 1
Spondyloenchondrodysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital coronary artery fistula to right atrium Occurrence True Congenital Inferred relationship Some 1
Suprabasal epidermolysis bullosa simplex (disorder) Occurrence True Congenital Inferred relationship Some 1
Wilson Turner syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Lumbar hemivertebra Occurrence True Congenital Inferred relationship Some 1
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Laryngeal cleft type IV Occurrence True Congenital Inferred relationship Some 1
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) Occurrence False Congenital Inferred relationship Some 1
Western type of congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital absence of auricle with atresia of auditory canal Occurrence True Congenital Inferred relationship Some 1
Bifid femur co-occurrent with monodactylous ectrodactyly (disorder) Occurrence True Congenital Inferred relationship Some 1
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 1
Hypertelorism Teebi type (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypertelorism Teebi type (disorder) Occurrence True Congenital Inferred relationship Some 2
Dentin dysplasia, type II Occurrence True Congenital Inferred relationship Some 1
Abnormal palmar creases Occurrence True Congenital Inferred relationship Some 1
Osteoporosis with pseudoglioma Occurrence True Congenital Inferred relationship Some 1
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Congenital bronchiectasis Occurrence True Congenital Inferred relationship Some 1
Discontinuous rib Occurrence True Congenital Inferred relationship Some 1
Beta-D-mannosidosis Occurrence True Congenital Inferred relationship Some 1
Right ventricle inferior to left ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital scar Occurrence True Congenital Inferred relationship Some 1
Omphalocele with gangrene Occurrence True Congenital Inferred relationship Some 1
Acromegaloid facial appearance syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Lethal Larsen-like syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Ash leaf spot, tuberous sclerosis Occurrence True Congenital Inferred relationship Some 1
Congenital absence of fourth and fifth toes Occurrence True Congenital Inferred relationship Some 1
Craniosynostosis and intracranial calcification syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Craniosynostosis and intracranial calcification syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Craniosynostosis and intracranial calcification syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital pectus carinatum Occurrence True Congenital Inferred relationship Some 1
Infantile cortical hyperostosis Occurrence True Congenital Inferred relationship Some 1

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