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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
Achondrogenesis Occurrence True Congenital Inferred relationship Some 1
Worth disease Occurrence True Congenital Inferred relationship Some 1
Aortico-left ventricular tunnel with intracardiac aneurysm of septal portion Occurrence True Congenital Inferred relationship Some 1
Anodontia of primary dentition Occurrence True Congenital Inferred relationship Some 1
Polyostotic fibrous dysplasia of bone Occurrence True Congenital Inferred relationship Some 1
Pontocerebellar hypoplasia type 1 Occurrence True Congenital Inferred relationship Some 1
Penoscrotal hypospadias Occurrence True Congenital Inferred relationship Some 1
Partial anomalous pulmonary venous connection of part of left lung Occurrence True Congenital Inferred relationship Some 1
X-linked retinal dysplasia Occurrence True Congenital Inferred relationship Some 1
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Occurrence False Congenital Inferred relationship Some 1
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Occurrence False Congenital Inferred relationship Some 2
Idiopathic multicentric osteolysis Occurrence True Congenital Inferred relationship Some 1
Atresia and stenosis of aorta Occurrence True Congenital Inferred relationship Some 1
Ullrich congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth-nail defects Occurrence True Congenital Inferred relationship Some 1
Nievergelt's syndrome Occurrence True Congenital Inferred relationship Some 1
Cardiocranial syndrome Pfeiffer type Occurrence True Congenital Inferred relationship Some 1
Bilateral muscular infundibula Occurrence True Congenital Inferred relationship Some 1
Aortico-left ventricular tunnel of simple type Occurrence True Congenital Inferred relationship Some 1
Cervical hemivertebra Occurrence True Congenital Inferred relationship Some 1
Cerebellar ataxia and ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia and sensorineural deafness syndrome Occurrence True Congenital Inferred relationship Some 2
Ectodermal dysplasia and sensorineural deafness syndrome Occurrence True Congenital Inferred relationship Some 1
Frontonasal dysplasia sequence Occurrence True Congenital Inferred relationship Some 1
Heide syndrome Occurrence True Congenital Inferred relationship Some 1
Heide syndrome Occurrence True Congenital Inferred relationship Some 2
Right superior vena cava connecting to coronary sinus Occurrence True Congenital Inferred relationship Some 2
Right superior vena cava connecting to coronary sinus Occurrence True Congenital Inferred relationship Some 1
Arteriovenous malformation of face Occurrence True Congenital Inferred relationship Some 1
Carpenter Waziri syndrome Occurrence False Congenital Inferred relationship Some 1
Congenital partial portal-systemic shunt Occurrence True Congenital Inferred relationship Some 1
Melorheostosis Occurrence True Congenital Inferred relationship Some 1
Melorheostosis Occurrence True Congenital Inferred relationship Some 2
Cutaneous lesion resulting from spinal dysraphism Occurrence False Congenital Inferred relationship Some 1
Hall Riggs syndrome Occurrence True Congenital Inferred relationship Some 1
Hall Riggs syndrome Occurrence True Congenital Inferred relationship Some 2
Hall Riggs syndrome Occurrence True Congenital Inferred relationship Some 3
Venous remnant Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of zygomatic bone Occurrence True Congenital Inferred relationship Some 1
Microtia Occurrence True Congenital Inferred relationship Some 1
Congenital degeneration of nervous system Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta, dominant perinatal lethal Occurrence True Congenital Inferred relationship Some 1
Wolcott-Rallison dysplasia Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia with sweating defect Occurrence True Congenital Inferred relationship Some 1
Congenital urethrovaginal fistula Occurrence True Congenital Inferred relationship Some 1
Congenital transverse mandibular hypoplasia Occurrence True Congenital Inferred relationship Some 1
CHIME syndrome Occurrence True Congenital Inferred relationship Some 2
CHIME syndrome Occurrence True Congenital Inferred relationship Some 4
CHIME syndrome Occurrence True Congenital Inferred relationship Some 5
CHIME syndrome Occurrence True Congenital Inferred relationship Some 3
Trichothiodystrophy Occurrence True Congenital Inferred relationship Some 2
Trichothiodystrophy Occurrence True Congenital Inferred relationship Some 1
Sacral spina bifida without hydrocephalus - open Occurrence True Congenital Inferred relationship Some 2
Congenital eventration of right crus of diaphragm Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of fetus Occurrence False Congenital Inferred relationship Some 1
Mannosidosis, type II Occurrence True Congenital Inferred relationship Some 1
Amelo-onycho-hypohidrotic syndrome Occurrence True Congenital Inferred relationship Some 1
Straddling tricuspid valve Occurrence True Congenital Inferred relationship Some 1
Agenesis of left kidney co-occurrent with congenital dysplasia of right kidney Occurrence True Congenital Inferred relationship Some 1
Maxillary dysostosis Occurrence True Congenital Inferred relationship Some 1
Cicatricial junctional epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Café-au-lait macules with temporal dysrhythmia Occurrence True Congenital Inferred relationship Some 1
Phocomelia Occurrence True Congenital Inferred relationship Some 1
Naxos disease Occurrence True Congenital Inferred relationship Some 2
Metaphyseal chondrodysplasia, Sedaghatian type Occurrence True Congenital Inferred relationship Some 1
Double inlet ventricle Occurrence True Congenital Inferred relationship Some 1
Lissencephaly with cerebellar hypoplasia type C Occurrence True Congenital Inferred relationship Some 1
Desbuquois syndrome Occurrence True Congenital Inferred relationship Some 1
Isolation of branch of aortic arch Occurrence True Congenital Inferred relationship Some 1
Dermatoosteolysis Kirghizian type Occurrence False Congenital Inferred relationship Some 2
Dermatoosteolysis Kirghizian type Occurrence True Congenital Inferred relationship Some 1
Salamon's syndrome Occurrence True Congenital Inferred relationship Some 1
Rozin Hertz Goodman syndrome Occurrence False Congenital Inferred relationship Some 3
Rozin Hertz Goodman syndrome Occurrence True Congenital Inferred relationship Some 2
Rozin Hertz Goodman syndrome Occurrence True Congenital Inferred relationship Some 1
Pelviscapular dysplasia Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow tract obstruction due to septal hypertrophy Occurrence False Congenital Inferred relationship Some 1
Partial anomalous pulmonary venous connection with anomalous veins connecting first to pulmonary venous confluence Occurrence True Congenital Inferred relationship Some 1
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Occurrence False Congenital Inferred relationship Some 1
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Occurrence False Congenital Inferred relationship Some 2
Genochondromatosis type 2 Occurrence True Congenital Inferred relationship Some 1
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness Occurrence True Congenital Inferred relationship Some 1
Microcornea with glaucoma and absent frontal sinus syndrome Occurrence True Congenital Inferred relationship Some 1
Short rib dysplasia group (with or without polydactyly) Occurrence False Congenital Inferred relationship Some 1
Brachytelephalangy, facial dysmorphism, Kallmann syndrome Occurrence True Congenital Inferred relationship Some 1
Gnathodiaphyseal dysplasia Occurrence True Congenital Inferred relationship Some 1
Cervical spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 3
Cervical spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 1
Alymphoid cystic thymic dysgenesis Occurrence True Congenital Inferred relationship Some 1
Alymphoid cystic thymic dysgenesis Occurrence True Congenital Inferred relationship Some 2
Parastremmatic dwarfism Occurrence True Congenital Inferred relationship Some 1
Complete transposition of great vessels Occurrence True Congenital Inferred relationship Some 2
Complete transposition of great vessels Occurrence True Congenital Inferred relationship Some 1
Popliteal pterygium syndrome Occurrence True Congenital Inferred relationship Some 1
Shprintzen-Goldberg syndrome Occurrence True Congenital Inferred relationship Some 2
Shprintzen-Goldberg syndrome Occurrence True Congenital Inferred relationship Some 1
Taurodontia with absent teeth and sparse hair syndrome Occurrence True Congenital Inferred relationship Some 3
Taurodontia with absent teeth and sparse hair syndrome Occurrence True Congenital Inferred relationship Some 1
Taurodontia with absent teeth and sparse hair syndrome Occurrence True Congenital Inferred relationship Some 2
Pontocerebellar hypoplasia type 8 Occurrence True Congenital Inferred relationship Some 1
Lelis syndrome Occurrence True Congenital Inferred relationship Some 2

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Reference Sets

Qualifier value foundation reference set

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