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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Hypoplastic left heart syndrome Occurrence False Congenital Inferred relationship Some
Fetal methyl mercury syndrome Occurrence False Congenital Inferred relationship Some
Congenital rectovaginal constriction of Jersey cattle Occurrence False Congenital Inferred relationship Some
Punctate oculocutaneous albinoidism Occurrence False Congenital Inferred relationship Some
Status marmoratus Occurrence False Congenital Inferred relationship Some
Diprosopus Occurrence False Congenital Inferred relationship Some
Chronic non-neuropathic Gaucher's disease Occurrence False Congenital Inferred relationship Some
Familial arthrogryposis-cholestatic hepatorenal syndrome Occurrence False Congenital Inferred relationship Some
Polydactyly of toes Occurrence False Congenital Inferred relationship Some
Arachnodactyly Occurrence False Congenital Inferred relationship Some
HNSHA due to diphosphoglycerate mutase deficiency Occurrence False Congenital Inferred relationship Some
Mannosidosis, type I Occurrence False Congenital Inferred relationship Some
Infantile nephropathic cystinosis Occurrence True Congenital Inferred relationship Some 3
Congenital stenosis of inferior vena cava Occurrence False Congenital Inferred relationship Some
Glucose-6-phosphate dehydrogenase deficiency anemia Occurrence True Congenital Inferred relationship Some 4
Infantile GM2 gangliosidosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Accessory urinary bladder (disorder) Occurrence False Congenital Inferred relationship Some
Chondroectodermal dysplasia Occurrence False Congenital Inferred relationship Some
Congenital hyperammonemia, type I Occurrence False Congenital Inferred relationship Some
Ectopic ovary Occurrence False Congenital Inferred relationship Some
Congenital defect of folate absorption Occurrence True Congenital Inferred relationship Some 1
Congenital complete absence of limb Occurrence False Congenital Inferred relationship Some
Globe of eye vestigial Occurrence False Congenital Inferred relationship Some
9p partial monosomy syndrome Occurrence False Congenital Inferred relationship Some
Multiple synostosis syndrome Occurrence False Congenital Inferred relationship Some
Congenital cyst of posterior segment of eye Occurrence False Congenital Inferred relationship Some
Failure of rotation of cecum Occurrence False Congenital Inferred relationship Some
Congenital deviation of nasal septum Occurrence False Congenital Inferred relationship Some
Congenital syphilitic meningitis (disorder) Occurrence False Congenital Inferred relationship Some
Hereditary sideroblastic anemia Occurrence False Congenital Inferred relationship Some
Unilateral complete cleft lip Occurrence False Congenital Inferred relationship Some
Franceschetti-Klein syndrome Occurrence False Congenital Inferred relationship Some
Frontometaphyseal dysplasia Occurrence False Congenital Inferred relationship Some
Incomplete bilateral cleft lip Occurrence False Congenital Inferred relationship Some
Congenital anomaly of vas deferens Occurrence False Congenital Inferred relationship Some
Congenital dilatation of trachea Occurrence False Congenital Inferred relationship Some
Antley-Bixler syndrome Occurrence True Congenital Inferred relationship Some 3
Persistent tunica vasculosa lentis Occurrence False Congenital Inferred relationship Some
15q partial monosomy syndrome Occurrence False Congenital Inferred relationship Some
Congenital atresia of tricuspid valve Occurrence False Congenital Inferred relationship Some
Single artery AND vein of umbilical cord Occurrence False Congenital Inferred relationship Some
Xanthomatosis Occurrence False Congenital Inferred relationship Some
Weaver syndrome Occurrence False Congenital Inferred relationship Some
Hajdu-Cheney syndrome Occurrence False Congenital Inferred relationship Some
Peripheral congenital arteriovenous aneurysm Occurrence False Congenital Inferred relationship Some
Uric acid level below reference range (finding) Occurrence False Congenital Inferred relationship Some
Congenital keratoconus (disorder) Occurrence False Congenital Inferred relationship Some
Cholestanol storage disease Occurrence False Congenital Inferred relationship Some
Williams syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Congenital rectovestibular fistula Occurrence False Congenital Inferred relationship Some
Glycine dehydrogenase (decarboxylating) deficiency Occurrence True Congenital Inferred relationship Some 1
Acephalocheiria Occurrence False Congenital Inferred relationship Some
Congenital posterior cleft of cricoid cartilage Occurrence False Congenital Inferred relationship Some
Larsen syndrome Occurrence False Congenital Inferred relationship Some
Ulnar dimelia Occurrence False Congenital Inferred relationship Some
Accessory ossification center Occurrence False Congenital Inferred relationship Some
Rufous albinism Occurrence False Congenital Inferred relationship Some
Congenital anemia Occurrence True Congenital Inferred relationship Some 3
Cleft hard and soft palate Occurrence False Congenital Inferred relationship Some
Apert's syndrome Occurrence False Congenital Inferred relationship Some
Dens evaginatus Occurrence False Congenital Inferred relationship Some
Alstrom syndrome Occurrence False Congenital Inferred relationship Some
Brachydactyly syndrome type E Occurrence False Congenital Inferred relationship Some
Launois-Bensaude's lipomatosis Occurrence False Congenital Inferred relationship Some
Brachygnathism Occurrence False Congenital Inferred relationship Some
Inverted pelvis Occurrence False Congenital Inferred relationship Some
Oculocutaneous albinism Occurrence False Congenital Inferred relationship Some
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Occurrence False Congenital Inferred relationship Some
Congenital subtotal cataract Occurrence False Congenital Inferred relationship Some
Overriding aorta Occurrence False Congenital Inferred relationship Some
Congenital absence of eyelash Occurrence False Congenital Inferred relationship Some
xanthélasma Occurrence False Congenital Inferred relationship Some
hémimélie d'un membre supérieur Occurrence False Congenital Inferred relationship Some
Porphobilinogen synthase deficiency Occurrence True Congenital Inferred relationship Some 1
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Occurrence False Congenital Inferred relationship Some
Systemic elastorrhexis Occurrence False Congenital Inferred relationship Some
Embryonic fimbrial cyst Occurrence False Congenital Inferred relationship Some
Ethanolaminosis Occurrence True Congenital Inferred relationship Some 1
Median palatal cyst Occurrence False Congenital Inferred relationship Some
Congenital rectovesical fistula Occurrence False Congenital Inferred relationship Some
Congenital chordee Occurrence False Congenital Inferred relationship Some
Aganglionosis of parasympathetic nerve ganglia Occurrence False Congenital Inferred relationship Some
Osteogenesis imperfecta with blue sclerae AND normal teeth Occurrence False Congenital Inferred relationship Some
Anakatadidymus Occurrence False Congenital Inferred relationship Some
Congenital clubnail Occurrence False Congenital Inferred relationship Some
Restrictive cardiomyopathy secondary to glycogen storage disease Occurrence False Congenital Inferred relationship Some
Hyperglycinemia Occurrence False Congenital Inferred relationship Some
A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities. Occurrence False Congenital Inferred relationship Some
Accessory ureter Occurrence False Congenital Inferred relationship Some
Malrotation of colon Occurrence False Congenital Inferred relationship Some
Partial albinism Occurrence False Congenital Inferred relationship Some
Tyrosinase-negative oculocutaneous albinism Occurrence False Congenital Inferred relationship Some
Sarcosine dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Pelizaeus-Merzbacher disease Occurrence False Congenital Inferred relationship Some 3
Congenital rhabdomyoma of heart Occurrence False Congenital Inferred relationship Some
Congenital incomplete atrioventricular block Occurrence False Congenital Inferred relationship Some
Partial congenital absence of teeth Occurrence False Congenital Inferred relationship Some
Congenital atresia of larynx Occurrence False Congenital Inferred relationship Some
Congenital anomaly of hair Occurrence False Congenital Inferred relationship Some
Accessory parathyroid gland Occurrence False Congenital Inferred relationship Some
Irido-corneal dysgenesis Occurrence False Congenital Inferred relationship Some

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