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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
Kallman syndrome with heart disease Occurrence True Congenital Inferred relationship Some 2
Osteosclerosis, ichthyosis, premature ovarian failure syndrome Occurrence True Congenital Inferred relationship Some 1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Occurrence True Congenital Inferred relationship Some 1
Carney Stratakis syndrome Occurrence True Congenital Inferred relationship Some 1
Carney Stratakis syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 2
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Occurrence True Congenital Inferred relationship Some 1
RHYNS syndrome Occurrence False Congenital Inferred relationship Some 6
RHYNS syndrome Occurrence False Congenital Inferred relationship Some 7
Retinohepatoendocrinologic syndrome Occurrence False Congenital Inferred relationship Some 3
Retinohepatoendocrinologic syndrome Occurrence False Congenital Inferred relationship Some 4
Retinohepatoendocrinologic syndrome Occurrence False Congenital Inferred relationship Some 5
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome Occurrence False Congenital Inferred relationship Some 3
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome Occurrence False Congenital Inferred relationship Some 4
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome Occurrence False Congenital Inferred relationship Some 6
Nephropathy, deafness, hyperparathyroidism syndrome Occurrence False Congenital Inferred relationship Some 5
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Occurrence False Congenital Inferred relationship Some 6
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria Occurrence True Congenital Inferred relationship Some 5
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria Occurrence False Congenital Inferred relationship Some 6
Laminopathy type Decaudain Vigouroux Occurrence False Congenital Inferred relationship Some 2
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency Occurrence True Congenital Inferred relationship Some 4
Growth delay due to insulin-like growth factor type 1 deficiency Occurrence True Congenital Inferred relationship Some 1
Pyridoxal 5-phosphate dependent epilepsy Occurrence True Congenital Inferred relationship Some 3
Amino acid transport disorder Occurrence False Congenital Inferred relationship Some
Pyridoxal 5-phosphate dependent epilepsy Occurrence True Congenital Inferred relationship Some 4
Familial male-limited precocious puberty Occurrence False Congenital Inferred relationship Some 4
Benign multiple endocrine neoplasia type 2a Occurrence False Congenital Inferred relationship Some 2
Malignant multiple endocrine neoplasia type 2a Occurrence False Congenital Inferred relationship Some 2
Homozygous methylenetetrahydrofolate reductase mutation Occurrence True Congenital Inferred relationship Some 1
Heterozygous methylenetetrahydrofolate reductase mutation Occurrence True Congenital Inferred relationship Some 1
Adolescent X-linked adrenoleukodystrophy Occurrence True Congenital Inferred relationship Some 1
Childhood cerebral X-linked adrenoleukodystrophy Occurrence True Congenital Inferred relationship Some 1
Hyperuricuria Occurrence False Congenital Inferred relationship Some
Transitory amino acid metabolic disorder Occurrence False Congenital Inferred relationship Some
Longitudinal deficiency of humerus Occurrence False Congenital Inferred relationship Some
Beckwith-Wiedemann syndrome Occurrence True Congenital Inferred relationship Some 6
Hereditary isolated hypoparathyroidism due to impaired parathormone secretion Occurrence False Congenital Inferred relationship Some 2
Familial isolated hypoparathyroidism Occurrence False Congenital Inferred relationship Some 5
17p11.2 microduplication syndrome Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Occurrence True Congenital Inferred relationship Some 3
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Occurrence False Congenital Inferred relationship Some 4
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Occurrence False Congenital Inferred relationship Some 5
Ectodermal dysplasia trichoodontoonychial type Occurrence True Congenital Inferred relationship Some 3
Ectodermal dysplasia trichoodontoonychial type Occurrence True Congenital Inferred relationship Some 4
Ectodermal dysplasia trichoodontoonychial type Occurrence True Congenital Inferred relationship Some 5
Chronic diarrhoea with villous atrophy syndrome Occurrence False Congenital Inferred relationship Some 4
Wolfram-like syndrome Occurrence True Congenital Inferred relationship Some 5
Wolfram-like syndrome Occurrence True Congenital Inferred relationship Some 6
Wolfram-like syndrome Occurrence True Congenital Inferred relationship Some 7
Intermediate anorectal malformation Occurrence True Congenital Inferred relationship Some 1
Isolated congenital megalocornea Occurrence True Congenital Inferred relationship Some 1
49,XYYYY syndrome Occurrence True Congenital Inferred relationship Some 1
Distal 22q11.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
Distal 22q11.2 microdeletion syndrome Occurrence False Congenital Inferred relationship Some 3
12q15q21.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
12q15q21.1 microdeletion syndrome Occurrence False Congenital Inferred relationship Some 3
Incomplete congenital absence of thigh AND leg Occurrence False Congenital Inferred relationship Some
Complete bilateral cleft palate with cleft lip Occurrence False Congenital Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Occurrence False Congenital Inferred relationship Some 6
SCARF syndrome Occurrence True Congenital Inferred relationship Some 5
SCARF syndrome Occurrence False Congenital Inferred relationship Some 6
SCARF syndrome Occurrence False Congenital Inferred relationship Some 7
SCARF syndrome Occurrence False Congenital Inferred relationship Some 8
Accessory lobe of lung Occurrence False Congenital Inferred relationship Some
Glucocorticoid deficiency with achalasia Occurrence True Congenital Inferred relationship Some 3
Deafness, vitiligo, achalasia syndrome Occurrence False Congenital Inferred relationship Some 7
Paravaginal cyst arising in mesonephric duct Occurrence False Congenital Inferred relationship Some
Congenital cerebellar cortical atrophy Occurrence False Congenital Inferred relationship Some
Congenital arteriovenous fistula of kidney Occurrence False Congenital Inferred relationship Some
Complete congenital absence of teeth Occurrence False Congenital Inferred relationship Some
Congenital stenosis of external auditory canal Occurrence False Congenital Inferred relationship Some
Congenital aneurysm of aorta Occurrence False Congenital Inferred relationship Some
Lip hypertrophy Occurrence False Congenital Inferred relationship Some
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland Occurrence False Congenital Inferred relationship Some 2
Congenital absence of leg with foot AND toes Occurrence False Congenital Inferred relationship Some
Aortopulmonary window Occurrence False Congenital Inferred relationship Some
Ehlers-Danlos syndrome, type 4 Occurrence False Congenital Inferred relationship Some
4p partial monosomy syndrome Occurrence False Congenital Inferred relationship Some
Congenital eventration of diaphragm Occurrence False Congenital Inferred relationship Some
Congenital absence of uterus Occurrence False Congenital Inferred relationship Some
Fibrochondrogenesis Occurrence False Congenital Inferred relationship Some
Pili torti Occurrence False Congenital Inferred relationship Some
Congenital diaphragmatic hernia Occurrence False Congenital Inferred relationship Some
Dextroposition of aorta Occurrence False Congenital Inferred relationship Some
Fetal valproate syndrome Occurrence False Congenital Inferred relationship Some
Allantoic cyst Occurrence False Congenital Inferred relationship Some
Congenital clinodactyly Occurrence False Congenital Inferred relationship Some
Double artery Occurrence False Congenital Inferred relationship Some
Ebstein's anomaly with atrial septal defect Occurrence False Congenital Inferred relationship Some
Ectopic thymic tissue Occurrence False Congenital Inferred relationship Some
Fusion of teeth Occurrence False Congenital Inferred relationship Some
Polyorchism Occurrence False Congenital Inferred relationship Some
Atresia of pupil Occurrence False Congenital Inferred relationship Some
Sacralisation of lumbar vertebra Occurrence False Congenital Inferred relationship Some
Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 Occurrence False Congenital Inferred relationship Some 5
Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 Occurrence False Congenital Inferred relationship Some 6
Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 Occurrence True Congenital Inferred relationship Some 7
Pyridoxine-dependent epilepsy Occurrence True Congenital Inferred relationship Some 4
Pyridoxine-dependent epilepsy Occurrence True Congenital Inferred relationship Some 5
Congenital hydrothorax Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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