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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
Nephrosis, deafness, urinary tract, digital malformation syndrome Occurrence True Congenital Inferred relationship Some 1
Scimitar syndrome Occurrence True Congenital Inferred relationship Some 1
Mannosidosis Occurrence True Congenital Inferred relationship Some 1
Congenital positive ulnar variant of wrist Occurrence True Congenital Inferred relationship Some 1
Congenital coxa vara Occurrence True Congenital Inferred relationship Some 1
Stenosis of systemic to pulmonary artery collateral artery Occurrence True Congenital Inferred relationship Some 2
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence True Congenital Inferred relationship Some 6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence True Congenital Inferred relationship Some 2
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence False Congenital Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence True Congenital Inferred relationship Some 3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence True Congenital Inferred relationship Some 4
Congenital junctional epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Dysostosis multiplex group Occurrence True Congenital Inferred relationship Some 1
Osteochondrodysplasia co-occurrent with defects of growth of tubular bones and spine Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of premaxilla Occurrence True Congenital Inferred relationship Some 1
Pseudo-polycoria Occurrence True Congenital Inferred relationship Some 1
Dacryocystitis and osteopoikilosis syndrome Occurrence True Congenital Inferred relationship Some 2
Dacryocystitis and osteopoikilosis syndrome Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta, perinatal lethal Occurrence True Congenital Inferred relationship Some 1
Multiple congenital anomalies of fetus Occurrence False Congenital Inferred relationship Some 1
Progressive diaphyseal dysplasia Occurrence False Congenital Inferred relationship Some 1
Osler haemorrhagic telangiectasia syndrome Occurrence True Congenital Inferred relationship Some 1
Cernunnos-XLF deficiency Occurrence True Congenital Inferred relationship Some 1
Congenital coxa valga Occurrence True Congenital Inferred relationship Some 1
Achondroplasia Occurrence True Congenital Inferred relationship Some 2
Achondroplasia Occurrence False Congenital Inferred relationship Some 1
Imperforate pulmonary valve Occurrence True Congenital Inferred relationship Some 1
Pulmonary venous confluence in horizontal orientation Occurrence True Congenital Inferred relationship Some 1
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Occurrence True Congenital Inferred relationship Some 1
Right superior vena cava persisting to coronary sinus and then to right sided atrium Occurrence True Congenital Inferred relationship Some 1
Right superior vena cava persisting to coronary sinus and then to right sided atrium Occurrence True Congenital Inferred relationship Some 2
Epidermolysis bullosa simplex with neuromuscular disease Occurrence False Congenital Inferred relationship Some 1
Otomandibular dysostosis Occurrence True Congenital Inferred relationship Some 2
Glycogenosis with glucoaminophosphaturia Occurrence True Congenital Inferred relationship Some 1
Trilogy of Fallot Occurrence True Congenital Inferred relationship Some 3
Trilogy of Fallot Occurrence True Congenital Inferred relationship Some 1
Oliver syndrome Occurrence True Congenital Inferred relationship Some 1
Craniofacial dyssynostosis syndrome Occurrence True Congenital Inferred relationship Some 2
Alopecia, contracture, dwarfism, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 3
Alopecia, contracture, dwarfism, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 2
Alopecia, contracture, dwarfism, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Metaphyseal chondrodysplasia, Spahr type Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive faciodigitogenital syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive faciodigitogenital syndrome Occurrence True Congenital Inferred relationship Some 2
Hepatic vein to left atrium and right atrium Occurrence True Congenital Inferred relationship Some 1
Hepatic vein to left atrium and right atrium Occurrence True Congenital Inferred relationship Some 2
Lumbar hemivertebra - balanced Occurrence True Congenital Inferred relationship Some 1
Acrofrontofacionasal dysostosis type 2 Occurrence True Congenital Inferred relationship Some 4
Acrofrontofacionasal dysostosis type 2 Occurrence True Congenital Inferred relationship Some 1
Acrofrontofacionasal dysostosis type 2 Occurrence True Congenital Inferred relationship Some 2
Acrofrontofacionasal dysostosis type 2 Occurrence True Congenital Inferred relationship Some 3
Craniometaphyseal dysplasia Occurrence True Congenital Inferred relationship Some 1
Craniometaphyseal dysplasia Occurrence True Congenital Inferred relationship Some 2
Autosomal dominant lamellar ichthyosis Occurrence True Congenital Inferred relationship Some 1
Spondyloepiphyseal dysplasia with congenital joint dislocations Occurrence True Congenital Inferred relationship Some 1
Hip dysplasia Beukes type Occurrence True Congenital Inferred relationship Some 1
Hip dysplasia Beukes type Occurrence True Congenital Inferred relationship Some 2
Dysplasia with defective mineralisation Occurrence True Congenital Inferred relationship Some 1
Triplex ureter Occurrence True Congenital Inferred relationship Some 1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital obstructive defect of renal pelvis Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of arch of lumbar vertebra Occurrence True Congenital Inferred relationship Some 1
Congenital leg length discrepancy Occurrence True Congenital Inferred relationship Some 1
Czeizel Losonci syndrome Occurrence True Congenital Inferred relationship Some 2
Czeizel Losonci syndrome Occurrence True Congenital Inferred relationship Some 5
Czeizel Losonci syndrome Occurrence True Congenital Inferred relationship Some 4
Czeizel Losonci syndrome Occurrence True Congenital Inferred relationship Some 1
Czeizel Losonci syndrome Occurrence True Congenital Inferred relationship Some 3
Jawad syndrome Occurrence True Congenital Inferred relationship Some 5
Jawad syndrome Occurrence True Congenital Inferred relationship Some 4
Bilateral microtia with deafness and cleft palate syndrome Occurrence True Congenital Inferred relationship Some 3
Bilateral microtia with deafness and cleft palate syndrome Occurrence True Congenital Inferred relationship Some 2
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Occurrence True Congenital Inferred relationship Some 2
Arteriovenous malformation of large intestine Occurrence False Congenital Inferred relationship Some 1
Congenital arteriovenous malformation of retina Occurrence False Congenital Inferred relationship Some 1
Bipartite ossification of centrum of thoracic vertebra Occurrence True Congenital Inferred relationship Some 1
Encephalo-ophthalmic dysplasia Occurrence False Congenital Inferred relationship Some 1
Juvenile cataract, microcornea, renal glucosuria syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital cataracts, facial dysmorphism and neuropathy Occurrence True Congenital Inferred relationship Some 1
Microphthalmia with ankyloblepharon and intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Temple Baraitser syndrome Occurrence True Congenital Inferred relationship Some 1
Temple Baraitser syndrome Occurrence True Congenital Inferred relationship Some 2
Frontal encephalocele Occurrence True Congenital Inferred relationship Some 1
Fibular aplasia and ectrodactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Fibular aplasia and ectrodactyly syndrome Occurrence True Congenital Inferred relationship Some 2
Lutembacher's syndrome Occurrence True Congenital Inferred relationship Some 1
Lutembacher's syndrome Occurrence True Congenital Inferred relationship Some 2
Persistent ostium secundum Occurrence True Congenital Inferred relationship Some 1
Bronchopulmonary collateral artery Occurrence True Congenital Inferred relationship Some 1
Cerebral-retinal arteriovenous aneurysm Occurrence True Congenital Inferred relationship Some 1
Joubert syndrome with Jeune asphyxiating thoracic dystrophy Occurrence True Congenital Inferred relationship Some 1
Joubert syndrome with Jeune asphyxiating thoracic dystrophy Occurrence True Congenital Inferred relationship Some 3
Joubert syndrome with Jeune asphyxiating thoracic dystrophy Occurrence True Congenital Inferred relationship Some 2
Hypoplasia of left ventricular inflow tract Occurrence True Congenital Inferred relationship Some 1
Congenital nonprogressive myopathy with Moebius and Robin sequences Occurrence True Congenital Inferred relationship Some 1
Keratosis palmaris et plantaris with clinodactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Keratosis palmaris et plantaris with clinodactyly syndrome Occurrence True Congenital Inferred relationship Some 2
Incomplete ossification of presphenoid bone Occurrence True Congenital Inferred relationship Some 1
Interrupted left inferior caval vein Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta with normal sclerae, dominant form Occurrence True Congenital Inferred relationship Some 1
Schimke immuno-osseous dysplasia Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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