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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
Ring chromosome 20 syndrome Occurrence False Congenital Inferred relationship Some
Levy-Hollister syndrome Occurrence False Congenital Inferred relationship Some
Sandhoff disease Occurrence True Congenital Inferred relationship Some 1
Congenital dislocation of shoulder Occurrence False Congenital Inferred relationship Some
Congenital anomaly of peripheral nerve Occurrence False Congenital Inferred relationship Some
Achondrogenesis Occurrence False Congenital Inferred relationship Some
Ectopic splenic tissue Occurrence False Congenital Inferred relationship Some
Imperfect fusion of skull Occurrence False Congenital Inferred relationship Some
Funicular hernia of umbilical cord Occurrence False Congenital Inferred relationship Some
Anomaly of dental arch Occurrence False Congenital Inferred relationship Some
Hyperleucinaemia Occurrence False Congenital Inferred relationship Some
Median mandibular cyst Occurrence False Congenital Inferred relationship Some
Complete bilateral cleft palate Occurrence False Congenital Inferred relationship Some
Congenital chorioretinal degeneration Occurrence False Congenital Inferred relationship Some
Distal arthrogryposis syndrome Occurrence False Congenital Inferred relationship Some
Congenital dilatation of colon Occurrence False Congenital Inferred relationship Some
Xiphopagus Occurrence False Congenital Inferred relationship Some
Cystathionine beta-synthase deficiency Occurrence True Congenital Inferred relationship Some 1
Metachromatic leucodystrophy, adult type Occurrence False Congenital Inferred relationship Some
Meromicrosomia Occurrence False Congenital Inferred relationship Some
Accessory thymic tissue Occurrence False Congenital Inferred relationship Some
Iniencephaly Occurrence True Congenital Inferred relationship Some 1
Thoracodelphus Occurrence False Congenital Inferred relationship Some
Mutilating keratoderma Occurrence False Congenital Inferred relationship Some
Primary gout Occurrence False Congenital Inferred relationship Some
Accessory eyelid Occurrence False Congenital Inferred relationship Some
Laterality sequence Occurrence False Congenital Inferred relationship Some
Posterior open bite Occurrence False Congenital Inferred relationship Some
Metaphyseal chondrodysplasia, Jansen type Occurrence False Congenital Inferred relationship Some
G-6-PD class III variant anaemia Occurrence True Congenital Inferred relationship Some 4
Retinitis pigmentosa-deafness syndrome Occurrence True Congenital Inferred relationship Some 2
Retinitis pigmentosa-deafness-ataxia syndrome Occurrence True Congenital Inferred relationship Some 2
Goldenhar syndrome Occurrence True Congenital Inferred relationship Some 1
Gorlin-Chaudhry-Moss syndrome Occurrence True Congenital Inferred relationship Some 1
Oculo-palato-digital syndrome Occurrence True Congenital Inferred relationship Some 1
Oculo-palato-digital syndrome Occurrence True Congenital Inferred relationship Some 2
Usher syndrome type 1 Occurrence True Congenital Inferred relationship Some 2
Usher syndrome type 2 Occurrence True Congenital Inferred relationship Some 2
Thoracopagus parasiticus Occurrence False Congenital Inferred relationship Some
Hypogonadism, diabetes mellitus, alopecia, intellectual disability and ECG abnormalities Occurrence False Congenital Inferred relationship Some 1
Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Occurrence True Congenital Inferred relationship Some 4
Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Occurrence True Congenital Inferred relationship Some 5
Oculodento-osseous dysplasia Occurrence True Congenital Inferred relationship Some 1
Oculodento-osseous dysplasia Occurrence False Congenital Inferred relationship Some 3
Floating-Harbour syndrome Occurrence True Congenital Inferred relationship Some 1
Kabuki make-up syndrome Occurrence True Congenital Inferred relationship Some 1
Renal coloboma syndrome Occurrence True Congenital Inferred relationship Some 1
Renal coloboma syndrome Occurrence True Congenital Inferred relationship Some 2
Solitary median maxillary central incisor syndrome Occurrence True Congenital Inferred relationship Some 2
Solitary median maxillary central incisor syndrome Occurrence True Congenital Inferred relationship Some 3
Townes syndrome Occurrence False Congenital Inferred relationship Some
Infantile cortical hyperostosis Occurrence False Congenital Inferred relationship Some
7p partial monosomy Occurrence False Congenital Inferred relationship Some
Congenital absence of broad ligament Occurrence False Congenital Inferred relationship Some
Potter's facies Occurrence False Congenital Inferred relationship Some
Congenital postural lordosis Occurrence False Congenital Inferred relationship Some
Congenital cerebral arteriovenous aneurysm Occurrence False Congenital Inferred relationship Some
Congenital anomaly of sternocleidomastoid muscle Occurrence False Congenital Inferred relationship Some
Mild hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin Occurrence False Congenital Inferred relationship Some
Benign adult cystinosis Occurrence True Congenital Inferred relationship Some 1
Lymphopenic agammaglobulinaemia - short-limbed dwarfism syndrome Occurrence False Congenital Inferred relationship Some
Hydromeningocele Occurrence False Congenital Inferred relationship Some
Congenital absence of uvula Occurrence False Congenital Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Occurrence False Congenital Inferred relationship Some
Coalition of calcaneus Occurrence False Congenital Inferred relationship Some
Hereditary spherocytosis due to spectrin deficiency Occurrence False Congenital Inferred relationship Some
Longitudinal deficiency of phalanges of foot Occurrence False Congenital Inferred relationship Some
Uterus parvicollis Occurrence False Congenital Inferred relationship Some
Congenital absence of vena cava Occurrence False Congenital Inferred relationship Some
Phytanic acid storage disease Occurrence True Congenital Inferred relationship Some 5
Aqueduct of Sylvius anomaly Occurrence False Congenital Inferred relationship Some
Primordial cyst Occurrence False Congenital Inferred relationship Some
Autosomal recessive glutaric aciduria, type 2 Occurrence False Congenital Inferred relationship Some 1
X chromosome-linked pyridoxine responsive sideroblastic anaemia Occurrence False Congenital Inferred relationship Some
Congenital absence of left pulmonary artery Occurrence False Congenital Inferred relationship Some
Syndactyly of fingers with fusion of bones Occurrence False Congenital Inferred relationship Some
Ehlers-Danlos syndrome, hydroxylysine-deficient Occurrence False Congenital Inferred relationship Some
Congenital duodenal obstruction due to malrotation of intestine Occurrence False Congenital Inferred relationship Some
Congenital fissure of sternum Occurrence False Congenital Inferred relationship Some
Isolated cystinuria Occurrence False Congenital Inferred relationship Some
Hyperhydroxyprolinaemia Occurrence False Congenital Inferred relationship Some
Neonatal iminoglycinuria Occurrence False Congenital Inferred relationship Some
Xeroderma pigmentosum, group C Occurrence False Congenital Inferred relationship Some
Kearns-Sayre syndrome Occurrence True Congenital Inferred relationship Some 1
Chiari's network Occurrence False Congenital Inferred relationship Some
Congenital atresia of ileum Occurrence False Congenital Inferred relationship Some
Dubowitz's syndrome Occurrence False Congenital Inferred relationship Some
Congenital absence of rectum Occurrence False Congenital Inferred relationship Some
Bone island Occurrence False Congenital Inferred relationship Some
Maroteaux-Lamy syndrome, intermediate form Occurrence True Congenital Inferred relationship Some 1
Congenital absence of external auditory canal Occurrence False Congenital Inferred relationship Some
Microcornea Occurrence False Congenital Inferred relationship Some
5-Oxoprolinase deficiency Occurrence True Congenital Inferred relationship Some 1
Complete transposition of great vessels Occurrence False Congenital Inferred relationship Some
Ectopic bone tissue, congenital Occurrence False Congenital Inferred relationship Some
Congenital atresia of oesophagus Occurrence False Congenital Inferred relationship Some
Frog fetus Occurrence False Congenital Inferred relationship Some
Aortic left ventricular tunnel Occurrence False Congenital Inferred relationship Some
Senter syndrome Occurrence False Congenital Inferred relationship Some
Chronic granulomatous disease, type IIA Occurrence False Congenital Inferred relationship Some
Uterus incudiformis Occurrence False Congenital Inferred relationship Some

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Reference Sets

Qualifier value foundation reference set

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