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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
Congenital absence of uterus Occurrence False Congenital Inferred relationship Some
A rare, rhizo-mesomelic dysplasia characterised by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the neonatal period present with severe global developmental delay, severe skeletal dysplasia, high myopia and mild to moderate hearing loss. 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
Sacralization of lumbar vertebra Occurrence False Congenital Inferred relationship Some
Overriding skull bones Occurrence False Congenital Inferred relationship Some
Sclerosteosis Occurrence False Congenital Inferred relationship Some
Congenital subluxation of carpus Occurrence False Congenital Inferred relationship Some
Bilateral right-sidedness sequence Occurrence False Congenital Inferred relationship Some
A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. Occurrence False Congenital Inferred relationship Some
Thoracodidymus Occurrence False Congenital Inferred relationship Some
Ostium primum defect Occurrence False Congenital Inferred relationship Some
Acquired megaduodenum Occurrence False Congenital Inferred relationship Some
Anomaly of chromosome pair 13 Occurrence False Congenital Inferred relationship Some
Mohr syndrome Occurrence False Congenital Inferred relationship Some
Azygos lobe of lung Occurrence False Congenital Inferred relationship Some
Leri-Weill dyschondrosteosis Occurrence False Congenital Inferred relationship Some
Cross syndrome Occurrence False Congenital Inferred relationship Some
Primary hyperoxaluria (disorder) Occurrence True Congenital Inferred relationship Some 1
Acrokeratosis verruciformis Occurrence False Congenital Inferred relationship Some
Trichorhinophalangeal syndrome Occurrence False Congenital Inferred relationship Some
Congenital deformity of sacroiliac joint (disorder) Occurrence False Congenital Inferred relationship Some
Accessory breast Occurrence False Congenital Inferred relationship Some
Early urethral obstruction sequence Occurrence False Congenital Inferred relationship Some
Congenital duodenal obstruction Occurrence False Congenital Inferred relationship Some
Unstable hemoglobin disease Occurrence False Congenital Inferred relationship Some
microcéphalie Occurrence False Congenital Inferred relationship Some
Diastematocrania Occurrence False Congenital Inferred relationship Some
Epispadias Occurrence False Congenital Inferred relationship Some
Unilateral congenital macrostomia Occurrence False Congenital Inferred relationship Some
Microcolon Occurrence False Congenital Inferred relationship Some
Oligomeganephronic hypoplasia of kidney Occurrence False Congenital Inferred relationship Some
Incomplete unilateral cleft palate with cleft lip Occurrence False Congenital Inferred relationship Some
Kyphosis due to radiation Occurrence False Congenital Inferred relationship Some
Congenital stenosis of aortic valve Occurrence False Congenital Inferred relationship Some
Accessory nose Occurrence False Congenital Inferred relationship Some
Congenital rubella syndrome Occurrence False Congenital Inferred relationship Some
Congenital sequestration of lung (disorder) Occurrence False Congenital Inferred relationship Some
Congenital omphalocele Occurrence False Congenital Inferred relationship Some
Defective development of cauda equina Occurrence False Congenital Inferred relationship Some
Congenital koilonychia Occurrence False Congenital Inferred relationship Some
Juvenile GM1 gangliosidosis Occurrence False Congenital Inferred relationship Some
Tryptophanuria Occurrence False Congenital Inferred relationship Some
H-type congenital tracheoesophageal fistula Occurrence False Congenital Inferred relationship Some
Preauricular cyst (disorder) Occurrence False Congenital Inferred relationship Some
Dysplasia of eye Occurrence False Congenital Inferred relationship Some
Centrofacial lentiginosis syndrome Occurrence False Congenital Inferred relationship Some
Schinzel-Giedion syndrome Occurrence False Congenital Inferred relationship Some
Cleft uvula Occurrence False Congenital Inferred relationship Some
Niemann-Pick disease, type D Occurrence True Congenital Inferred relationship Some 1
Ectopic breast tissue Occurrence False Congenital Inferred relationship Some
Störung der Geschlechtsentwicklung 46,XX, ovotestikuläre Occurrence False Congenital Inferred relationship Some
Congenital prolapse of urethra Occurrence False Congenital Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Occurrence False Congenital Inferred relationship Some
syringomyélobulbie Occurrence False Congenital Inferred relationship Some
Neurofibromatosis syndrome Occurrence False Congenital Inferred relationship Some
Epidermodysplasia verruciformis Occurrence False Congenital Inferred relationship Some
Ischiopagus (disorder) Occurrence False Congenital Inferred relationship Some
Congenital syphilitic hepatomegaly Occurrence False Congenital Inferred relationship Some
Congenital absence of urethra Occurrence False Congenital Inferred relationship Some
Premature closure of foramen ovale Occurrence False Congenital Inferred relationship Some
Osteopetrosis Occurrence False Congenital Inferred relationship Some
kyste cérébral congénital Occurrence False Congenital Inferred relationship Some
Clutton's joints Occurrence False Congenital Inferred relationship Some
Connective tissue nevus of skin Occurrence False Congenital Inferred relationship Some
Ectopic pancreas Occurrence False Congenital Inferred relationship Some
macrocéphalie Occurrence False Congenital Inferred relationship Some
Congenital anomaly of eye Occurrence False Congenital Inferred relationship Some
8p partial monosomy syndrome Occurrence False Congenital Inferred relationship Some
Occipital dysplasia Occurrence False Congenital Inferred relationship Some
Axenfeld's anomaly Occurrence False Congenital Inferred relationship Some
Hypertaurodontism Occurrence False Congenital Inferred relationship Some
Congenital deficiency of pigment of skin Occurrence False Congenital Inferred relationship Some
22q partial monosomy (disorder) Occurrence False Congenital Inferred relationship Some
Preauricular dimple Occurrence False Congenital Inferred relationship Some
Triglyceride storage disease with ichthyosis Occurrence True Congenital Inferred relationship Some 2
Longitudinal absence of radius AND ulna Occurrence False Congenital Inferred relationship Some
Cutis laxa, acquired type Occurrence False Congenital Inferred relationship Some
Cebocephalus Occurrence False Congenital Inferred relationship Some
Nodular calcific aortic valve stenosis Occurrence False Congenital Inferred relationship Some
Sturge-Weber syndrome Occurrence False Congenital Inferred relationship Some
Porokeratosis of Mibelli, plaque type Occurrence False Congenital Inferred relationship Some
Accessory carpal bones Occurrence False Congenital Inferred relationship Some
Secondary orotic aciduria Occurrence False Congenital Inferred relationship Some
A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia. Occurrence False Congenital Inferred relationship Some
Congenital entropion Occurrence False Congenital Inferred relationship Some
Calcaneonavicular bar Occurrence False Congenital Inferred relationship Some
Torsion of accessory fallopian tube Occurrence False Congenital Inferred relationship Some
Dominant congenital ichthyosiform erythroderma Occurrence False Congenital Inferred relationship Some
Pott's curvature Occurrence False Congenital Inferred relationship Some
Unilateral complete cleft palate Occurrence False Congenital Inferred relationship Some

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