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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
Unilateral segmental cavernous hemangioma Occurrence False Congenital Inferred relationship Some
Congenital giant pigmented nevus of skin Occurrence False Congenital Inferred relationship Some
Oculocutaneous melanocytic naevus Occurrence False Congenital Inferred relationship Some
Ulcero - mutilating haemangiomatosis Occurrence False Congenital Inferred relationship Some
Congenital valvular insufficiency Occurrence False Congenital Inferred relationship Some
Persistent urogenital sinus Occurrence False Congenital Inferred relationship Some
Mucopolysaccharidosis Occurrence True Congenital Inferred relationship Some 1
Band of Ladd Occurrence False Congenital Inferred relationship Some
Spinal arteriovenous malformation Occurrence False Congenital Inferred relationship Some
Vitellointestinal band Occurrence False Congenital Inferred relationship Some
Anterolateral muscle band Occurrence False Congenital Inferred relationship Some
Bilateral atria Occurrence False Congenital Inferred relationship Some
Bilateral isomeric atria Occurrence False Congenital Inferred relationship Some
Epoophoron Occurrence False Congenital Inferred relationship Some
Malaligned outlet septum Occurrence False Congenital Inferred relationship Some
Posteromedial muscle band Occurrence False Congenital Inferred relationship Some
Simonart's band Occurrence False Congenital Inferred relationship Some
Persistent vertical vein Occurrence False Congenital Inferred relationship Some
False tendon - heart Occurrence False Congenital Inferred relationship Some
Persistent Gartner's duct Occurrence False Congenital Inferred relationship Some
Mullerian remnant Occurrence False Congenital Inferred relationship Some
Septoparietal trabeculations Occurrence False Congenital Inferred relationship Some
Upper moiety ureter of duplex kidney Occurrence False Congenital Inferred relationship Some
Lower moiety ureter of duplex kidney Occurrence False Congenital Inferred relationship Some
Aland eye disease and ocular albinism Occurrence False Congenital Inferred relationship Some
Congenital coronary artery fistula Occurrence False Congenital Inferred relationship Some
Congenital complete absence of lower limb Occurrence False Congenital Inferred relationship Some
Late congenital neurosyphilis Occurrence False Congenital Inferred relationship Some
Ectopic gray matter Occurrence False Congenital Inferred relationship Some
Congenital non bullous ichthyosiform erythroderma (disorder) Occurrence False Congenital Inferred relationship Some
Mixed hyperlipidaemia Occurrence False Congenital Inferred relationship Some
Familial hyperchylomicronemia Occurrence False Congenital Inferred relationship Some
Lipoprotein deficiency disorder Occurrence False Congenital Inferred relationship Some
Hypoxanthine-guanine phosphoribosyltransferase deficiency Occurrence False Congenital Inferred relationship Some
Lipoidosis Occurrence False Congenital Inferred relationship Some
Rieger eye malformation sequence Occurrence False Congenital Inferred relationship Some
Postural kyphosis Occurrence False Congenital Inferred relationship Some
Congenital corneal opacity Occurrence False Congenital Inferred relationship Some
Congenital ptosis (disorder) Occurrence False Congenital Inferred relationship Some
Congenital abnormality of lacrimal passage Occurrence False Congenital Inferred relationship Some
Misplaced ear Occurrence False Congenital Inferred relationship Some
Supravalvar aortic stenosis Occurrence False Congenital Inferred relationship Some
Single lung cyst Occurrence False Congenital Inferred relationship Some
Ectopic tissue in lung Occurrence False Congenital Inferred relationship Some
Congenital abnormality of liver and/or biliary tract (disorder) Occurrence False Congenital Inferred relationship Some
Displaced uterus Occurrence False Congenital Inferred relationship Some
Congenital fusion of labia Occurrence False Congenital Inferred relationship Some
testicule non descendu unilatéral Occurrence False Congenital Inferred relationship Some
Undescended testes - bilateral Occurrence False Congenital Inferred relationship Some
Indeterminate sex and pseudohermaphroditism Occurrence False Congenital Inferred relationship Some
Bilateral renal hypoplasia Occurrence False Congenital Inferred relationship Some
Fibrocystic kidney disease Occurrence False Congenital Inferred relationship Some
Congenital abnormality of skull and face bones Occurrence False Congenital Inferred relationship Some
Congenital torticollis Occurrence False Congenital Inferred relationship Some
Harlequin fetus Occurrence False Congenital Inferred relationship Some
Simple syndactyly of fingers Occurrence False Congenital Inferred relationship Some
Constriction ring of upper limb Occurrence False Congenital Inferred relationship Some
Constriction ring of upper limb with lymphedema Occurrence False Congenital Inferred relationship Some
Enchondromatosis Occurrence False Congenital Inferred relationship Some
Congenital generalised alopecia Occurrence False Congenital Inferred relationship Some
Hypoplasia of nipple Occurrence False Congenital Inferred relationship Some
Chromosome replaced with ring or dicentric Occurrence False Congenital Inferred relationship Some
Klinefelter's syndrome - male with more than two X chromosomes Occurrence False Congenital Inferred relationship Some
Aberrant thyroid gland Occurrence False Congenital Inferred relationship Some
Congenital renal failure Occurrence False Congenital Inferred relationship Some
Localised congenital skull defect Occurrence False Congenital Inferred relationship Some
Whole chromosome monosomy - mitotic nondisjunction mosaicism Occurrence False Congenital Inferred relationship Some
Trisomy and partial trisomy of autosome Occurrence False Congenital Inferred relationship Some
Congenital absence of thumb Occurrence False Congenital Inferred relationship Some
Congenital instability of hip joint Occurrence False Congenital Inferred relationship Some
Congenital absence of tendon Occurrence False Congenital Inferred relationship Some
Congenital absence of breast with absent nipple Occurrence False Congenital Inferred relationship Some
Congenital stenosis of nasolacrimal duct Occurrence False Congenital Inferred relationship Some
Congenital renal artery stenosis Occurrence False Congenital Inferred relationship Some
Congenital varus deformities of foot Occurrence False Congenital Inferred relationship Some
Intrauterine amputation of upper limb Occurrence False Congenital Inferred relationship Some
Aberrant intrinsic muscles of hand Occurrence False Congenital Inferred relationship Some
Meningomyelocele/myelocele Occurrence False Congenital Inferred relationship Some
microcéphalie primitive Occurrence False Congenital Inferred relationship Some
Congenital abnormality of thoracic aorta and pulmonary arteries Occurrence False Congenital Inferred relationship Some
Congenital microcheilia Occurrence False Congenital Inferred relationship Some
Hereditary hypertyrosinemia Occurrence False Congenital Inferred relationship Some
Congenital malformation of ovaries and fallopian tubes Occurrence False Congenital Inferred relationship Some
Homocarnosinosis Occurrence False Congenital Inferred relationship Some
A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalized muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency. Occurrence True Congenital Inferred relationship Some 1
Deletion with complex rearrangement Occurrence False Congenital Inferred relationship Some
Divided right atrium Occurrence False Congenital Inferred relationship Some
Hyperlipoproteinemia, type I Occurrence False Congenital Inferred relationship Some 1
Pterin-4-carbinolamine dehydratase deficiency Occurrence False Congenital Inferred relationship Some
Uroporphyrinogen decarboxylase deficiency Occurrence False Congenital Inferred relationship Some
Porphobilinogen deaminase deficiency Occurrence False Congenital Inferred relationship Some
Ferrochelatase deficiency Occurrence False Congenital Inferred relationship Some
Disorder of bilirubin metabolism and excretion Occurrence False Congenital Inferred relationship Some
Complete congenital duodenal obstruction Occurrence False Congenital Inferred relationship Some
Ornithine aminotransferase deficiency Occurrence False Congenital Inferred relationship Some
Congenital clubbing Occurrence False Congenital Inferred relationship Some
Transient tricuspid regurgitation of newborn Occurrence False Congenital Inferred relationship Some
Physiological anemia of infancy Occurrence True Congenital Inferred relationship Some 3
Late anaemia of newborn Occurrence True Congenital Inferred relationship Some 3
Congenital nephritis Occurrence False Congenital Inferred relationship Some
Umbilical polyp of newborn Occurrence False Congenital Inferred relationship Some

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This concept is not in any reference sets

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