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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
Prion disease Occurrence False Congenital Inferred relationship Some
Autosomal dominant variant form of albumin Occurrence False Congenital Inferred relationship Some
X-linked absence of thyroxine-binding globulin (disorder) Occurrence False Congenital Inferred relationship Some
Iodide transport defect Occurrence False Congenital Inferred relationship Some
Iodotyrosyl coupling defect Occurrence False Congenital Inferred relationship Some
Cutis marmorata Occurrence False Congenital Inferred relationship Some
Congenital fiber type disproportion myopathy Occurrence False Congenital Inferred relationship Some
lattante ipotonico Occurrence False Congenital Inferred relationship Some
Zebra body myopathy (disorder) Occurrence False Congenital Inferred relationship Some
Inherited disorder of thyroid metabolism Occurrence False Congenital Inferred relationship Some
Chronic wasting disease of captive mule deer AND/OR elk Occurrence False Congenital Inferred relationship Some
Supernumerary tooth (disorder) Occurrence False Congenital Inferred relationship Some
X-linked reduction of thyroxine-binding globulin Occurrence False Congenital Inferred relationship Some
Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Occurrence False Congenital Inferred relationship Some
Sarcotubular myopathy Occurrence False Congenital Inferred relationship Some
Thyroglobulin proteolysis defect Occurrence False Congenital Inferred relationship Some
Severe X-linked myotubular myopathy (disorder) Occurrence False Congenital Inferred relationship Some
Angioma serpiginosum Occurrence False Congenital Inferred relationship Some
Thyroid hormone responsiveness defect Occurrence False Congenital Inferred relationship Some
Iodide oxidation defect Occurrence False Congenital Inferred relationship Some
Pigmented hairy epidermal nevus Occurrence False Congenital Inferred relationship Some
Congenital muscular hypertrophy-cerebral syndrome Occurrence False Congenital Inferred relationship Some
Multi-core congenital myopathy Occurrence False Congenital Inferred relationship Some
X-linked excess of thyroxine-binding globulin Occurrence False Congenital Inferred relationship Some
Hypothyroidism due to defect in thyroid hormone synthesis Occurrence False Congenital Inferred relationship Some
Facioscapulohumeral muscular dystrophy Occurrence False Congenital Inferred relationship Some
Thyroxine transport defect Occurrence False Congenital Inferred relationship Some
Distal muscular dystrophy Occurrence False Congenital Inferred relationship Some
Thyroglobulin synthesis defect Occurrence False Congenital Inferred relationship Some
Myxoedematous form of cretinism Occurrence False Congenital Inferred relationship Some
Autosomal dominant excess of transthyretin Occurrence False Congenital Inferred relationship Some
Gerstmann-Straussler-Scheinker syndrome Occurrence False Congenital Inferred relationship Some
Mixed congenital myopathy Occurrence False Congenital Inferred relationship Some
Congenital myopathy with abnormal subcellular organelles Occurrence False Congenital Inferred relationship Some
Pendred's syndrome Occurrence False Congenital Inferred relationship Some
Nevus unius lateris Occurrence False Congenital Inferred relationship Some
X-linked variant form of thyroxine-binding globulin Occurrence False Congenital Inferred relationship Some
Transmissible mink encephalopathy Occurrence False Congenital Inferred relationship Some
Nemaline myopathy Occurrence False Congenital Inferred relationship Some
Duchenne muscular dystrophy Occurrence False Congenital Inferred relationship Some
Oculopharyngeal muscular dystrophy (disorder) Occurrence False Congenital Inferred relationship Some
Thyroxine plasma membrane transport defect Occurrence False Congenital Inferred relationship Some
Iodide peroxidase defect Occurrence False Congenital Inferred relationship Some
Myotubular myopathy Occurrence False Congenital Inferred relationship Some
Fatal familial insomnia Occurrence False Congenital Inferred relationship Some
Progressive subcortical gliosis Occurrence False Congenital Inferred relationship Some
Single supernumerary tooth Occurrence False Congenital Inferred relationship Some
Arteriovenous malformation of kidney Occurrence False Congenital Inferred relationship Some
Autosomal recessive severe combined immunodeficiency disease (disorder) Occurrence True Congenital Inferred relationship Some 1
Malignant neoplasm of Gartner's duct Occurrence False Congenital Inferred relationship Some
myasthénie congénitale et du développement Occurrence False Congenital Inferred relationship Some
Atrial septal defect due to and following acute myocardial infarction (disorder) Occurrence False Congenital Inferred relationship Some
Congenital aneurysm of heart Occurrence False Congenital Inferred relationship Some
Lithopedian Occurrence False Congenital Inferred relationship Some
Acquired hemangiomatosis (disorder) Occurrence False Congenital Inferred relationship Some
Nemaline myopathy, early onset type Occurrence False Congenital Inferred relationship Some
Nemaline myopathy, late onset type Occurrence False Congenital Inferred relationship Some
[X]Dementia in Creutzfeldt-Jakob disease Occurrence False Congenital Inferred relationship Some
Hereditary edema of legs NOS Occurrence False Congenital Inferred relationship Some
Congenital arthrogryposis caused by teratogen (disorder) Occurrence False Congenital Inferred relationship Some
Hepatoportal microvascular dysplasia (disorder) Occurrence False Congenital Inferred relationship Some
schistosomus reflexus Occurrence False Congenital Inferred relationship Some
Mittendorf's dot (disorder) Occurrence False Congenital Inferred relationship Some
Congenital anomaly of endocrine ovary (disorder) Occurrence False Congenital Inferred relationship Some
Congenital absence of both testes (disorder) Occurrence False Congenital Inferred relationship Some
Translocation Down syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Congenital syringomyelia (disorder) Occurrence False Congenital Inferred relationship Some
Congenital leg length discrepancy (disorder) Occurrence False Congenital Inferred relationship Some
Congenital anomaly of endocrine gonad (disorder) Occurrence False Congenital Inferred relationship Some
Congenital anomaly of endocrine testis (disorder) Occurrence False Congenital Inferred relationship Some
Bilateral acheiria (disorder) Occurrence False Congenital Inferred relationship Some
Bilateral congenital absence of feet (disorder) Occurrence False Congenital Inferred relationship Some
Congenital absence of foot (disorder) Occurrence False Congenital Inferred relationship Some
Congenital absence of hand (disorder) Occurrence False Congenital Inferred relationship Some
acheirie unilatérale Occurrence False Congenital Inferred relationship Some
Unilateral congenital absence of foot Occurrence False Congenital Inferred relationship Some
Congenital cerebellar cortical atrophy (disorder) Occurrence False Congenital Inferred relationship Some
Porphyrinopathy (disorder) Occurrence False Congenital Inferred relationship Some
Congenital dislocation of elbow (disorder) Occurrence False Congenital Inferred relationship Some
Coronary artery fistula to left atrium (disorder) Occurrence False Congenital Inferred relationship Some
Coronary artery fistula (disorder) Occurrence False Congenital Inferred relationship Some
Coronary artery fistula to left ventricle (disorder) Occurrence False Congenital Inferred relationship Some
Coronary artery fistula to right atrium (disorder) Occurrence False Congenital Inferred relationship Some
Coronary artery fistula to right ventricle (disorder) Occurrence False Congenital Inferred relationship Some
Syndactyly (disorder) Occurrence False Congenital Inferred relationship Some
Congenital bony fusion of phalanges (disorder) Occurrence False Congenital Inferred relationship Some
Bovine hereditary syndactyly Occurrence False Congenital Inferred relationship Some
Congenital obstruction of ureteropelvic junction Occurrence False Congenital Inferred relationship Some
Congenital obstruction of ureteral orifice Occurrence False Congenital Inferred relationship Some
Congenital urinary meatus obstruction (disorder) Occurrence False Congenital Inferred relationship Some
Chiari malformation type II (disorder) Occurrence False Congenital Inferred relationship Some
Congenital vesicoureterorenal reflux (disorder) Occurrence False Congenital Inferred relationship Some
Cleft lip and cleft of alveolar process of maxilla (disorder) Occurrence False Congenital Inferred relationship Some
Hypoplasia of optic disc (disorder) Occurrence False Congenital Inferred relationship Some
Optic disc hypoplasia Occurrence False Congenital Inferred relationship Some
Optic disc structural anomaly (disorder) Occurrence False Congenital Inferred relationship Some
Jervell and Lange-Nielsen syndrome Occurrence False Congenital Inferred relationship Some
Congenital pancreatic enterokinase deficiency Occurrence False Congenital Inferred relationship Some 1
Congenital spondylolisthesis Occurrence False Congenital Inferred relationship Some
Congenital absence of vertebra Occurrence False Congenital Inferred relationship Some
Sacralization of lumbar vertebra Occurrence False Congenital Inferred relationship Some

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This concept is not in any reference sets

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