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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
Osteoporosis and oculocutaneous hypopigmentation syndrome Occurrence True Congenital Inferred relationship Some 3
Osteoporosis and oculocutaneous hypopigmentation syndrome Occurrence True Congenital Inferred relationship Some 1
Dysplasia epiphysealis hemimelica Occurrence True Congenital Inferred relationship Some 1
Congenital coronary artery fistula to pulmonary artery Occurrence True Congenital Inferred relationship Some 1
Weill-Marchesani syndrome Occurrence True Congenital Inferred relationship Some 3
Acrocephaly Occurrence True Congenital Inferred relationship Some 1
Hemimyelocele Occurrence True Congenital Inferred relationship Some 2
Situs inversus viscerum Occurrence True Congenital Inferred relationship Some 1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Occurrence True Congenital Inferred relationship Some 2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Occurrence True Congenital Inferred relationship Some 1
Aortico-left ventricular tunnel with extracardiac aneurysm of aortic wall Occurrence True Congenital Inferred relationship Some 1
Occipital encephalocele Occurrence True Congenital Inferred relationship Some 2
Universal mesentery Occurrence True Congenital Inferred relationship Some 1
Bamforth Lazarus syndrome Occurrence True Congenital Inferred relationship Some 2
Weber-Cockayne syndrome Occurrence True Congenital Inferred relationship Some 1
Hypohidrotic ectodermal dysplasia, hypothyroidism, ciliary dyskinesia syndrome Occurrence True Congenital Inferred relationship Some 1
Hypohidrotic ectodermal dysplasia, hypothyroidism, ciliary dyskinesia syndrome Occurrence True Congenital Inferred relationship Some 2
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome Occurrence True Congenital Inferred relationship Some 3
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome Occurrence True Congenital Inferred relationship Some 2
11p partial monosomy syndrome Occurrence True Congenital Inferred relationship Some 2
Pulmonary trunk absent with absent left pulmonary artery Occurrence True Congenital Inferred relationship Some 1
Dysostosis multiplex Occurrence True Congenital Inferred relationship Some 1
Transient bullous dermolysis of newborn Occurrence True Congenital Inferred relationship Some 2
Spina bifida without hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 2
Carney complex Occurrence True Congenital Inferred relationship Some 1
Carney complex Occurrence True Congenital Inferred relationship Some 2
Congenital coronary artery fistula to right ventricle Occurrence True Congenital Inferred relationship Some 2
Congenital coronary artery fistula to right ventricle Occurrence True Congenital Inferred relationship Some 1
Astley-Kendall dysplasia Occurrence True Congenital Inferred relationship Some 1
Fallopian tube and broad ligament anomalies Occurrence True Congenital Inferred relationship Some 1
Fallopian tube and broad ligament anomalies Occurrence True Congenital Inferred relationship Some 2
Acropectoral syndrome Occurrence True Congenital Inferred relationship Some 1
Laminar heterotopia Occurrence True Congenital Inferred relationship Some 1
Congenital pontocerebellar hypoplasia Occurrence True Congenital Inferred relationship Some 1
Brachyolmia - Maroteaux type Occurrence True Congenital Inferred relationship Some 1
Osteodysplastic primordial dwarfism Occurrence True Congenital Inferred relationship Some 1
Ecchordosis physaliphora Occurrence False Congenital Inferred relationship Some 2
Chondrodysplasia punctata, Conradi-Hünermann type Occurrence True Congenital Inferred relationship Some 1
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 4
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 1
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 2
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 3
Dermo-odonto dysplasia Occurrence True Congenital Inferred relationship Some 1
Sonoda syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of thoracic aorta and pulmonary arteries Occurrence True Congenital Inferred relationship Some 1
Acephalorhachia Occurrence False Congenital Inferred relationship Some 1
Atrioventricular septal defect and common atrioventricular junction Occurrence True Congenital Inferred relationship Some 1
Malignant hyperthermia with arthrogryposis and torticollis syndrome Occurrence True Congenital Inferred relationship Some 2
Port-wine stain in proteus syndrome Occurrence True Congenital Inferred relationship Some 1
Right superior caval vein connecting to coronary sinus and then to left sided atrium Occurrence True Congenital Inferred relationship Some 2
Right superior caval vein connecting to coronary sinus and then to left sided atrium Occurrence True Congenital Inferred relationship Some 1
Indeterminate atrial arrangement Occurrence True Congenital Inferred relationship Some 1
Congenital elevation of scapula Occurrence True Congenital Inferred relationship Some 1
Hyperphosphatasaemia with bone disease Occurrence True Congenital Inferred relationship Some 1
Hyperphosphatasaemia with bone disease Occurrence True Congenital Inferred relationship Some 2
Brain calcification Rajab type Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract abnormality Occurrence True Congenital Inferred relationship Some 1
Pulmonary venous confluence in vertical orientation Occurrence True Congenital Inferred relationship Some 1
Johanson-Blizzard syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital discoid meniscus Occurrence True Congenital Inferred relationship Some 1
Craniometaphyseal dysplasia - severe type Occurrence False Congenital Inferred relationship Some 1
Craniometaphyseal dysplasia - severe type Occurrence True Congenital Inferred relationship Some 2
Atrial septal defect with endocardial cushion defect, partial type Occurrence True Congenital Inferred relationship Some 1
Postductal aortic stenosis Occurrence True Congenital Inferred relationship Some 1
Compression of trachea and oesophagus co-occurrent and due to congenital anomaly of aortic arch Occurrence True Congenital Inferred relationship Some 2
Compression of trachea and oesophagus co-occurrent and due to congenital anomaly of aortic arch Occurrence True Congenital Inferred relationship Some 3
Compression of trachea and oesophagus co-occurrent and due to congenital anomaly of aortic arch Occurrence True Congenital Inferred relationship Some 1
Syndromic orbital border hypoplasia Occurrence True Congenital Inferred relationship Some 1
Fuhrmann syndrome Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of frontal bone Occurrence True Congenital Inferred relationship Some 1
Osteosclerosis, ichthyosis, premature ovarian failure syndrome Occurrence True Congenital Inferred relationship Some 3
Adult onset autosomal recessive muscular dystrophy with normal dystrophin Occurrence False Congenital Inferred relationship Some 2
Congenital corneal keloid Occurrence True Congenital Inferred relationship Some 1
Exstrophy of cloaca sequence Occurrence True Congenital Inferred relationship Some 1
Exstrophy of cloaca sequence Occurrence True Congenital Inferred relationship Some 2
Exstrophy of cloaca sequence Occurrence True Congenital Inferred relationship Some 3
Exstrophy of cloaca sequence Occurrence True Congenital Inferred relationship Some 4
Recessive dystrophic epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Transposition of pulmonary veins Occurrence True Congenital Inferred relationship Some 2
Transposition of pulmonary veins Occurrence True Congenital Inferred relationship Some 1
Congenital penile torsion Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of bone and joint Occurrence True Congenital Inferred relationship Some 1
Thong Douglas Ferrante syndrome Occurrence True Congenital Inferred relationship Some 1
Lipomeningocele Occurrence True Congenital Inferred relationship Some 2
Parkes Weber syndrome Occurrence True Congenital Inferred relationship Some 1
Atrichia with papular lesions Occurrence False Congenital Inferred relationship Some 2
Arrhinia with choanal atresia and microphthalmia syndrome Occurrence True Congenital Inferred relationship Some 1
Arrhinia with choanal atresia and microphthalmia syndrome Occurrence True Congenital Inferred relationship Some 2
Occipital dysplasia Occurrence True Congenital Inferred relationship Some 1
Bartsocas Papas syndrome Occurrence True Congenital Inferred relationship Some 2
Bartsocas Papas syndrome Occurrence True Congenital Inferred relationship Some 1
Shwachman syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital ectodermal dysplasia of face Occurrence False Congenital Inferred relationship Some 1
Vici syndrome Occurrence True Congenital Inferred relationship Some 3
Vici syndrome Occurrence True Congenital Inferred relationship Some 1
Vici syndrome Occurrence True Congenital Inferred relationship Some 2
Azygos lobe of lung Occurrence True Congenital Inferred relationship Some 1
Summitt syndrome Occurrence True Congenital Inferred relationship Some 2
Summitt syndrome Occurrence True Congenital Inferred relationship Some 1
Pulmonary trunk absent with absent right pulmonary artery Occurrence True Congenital Inferred relationship Some 1
Absence of fingerprints with congenital milia syndrome Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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