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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
Crossed renal ectopia Occurrence False Congenital Inferred relationship Some
Congenital short hard palate Occurrence False Congenital Inferred relationship Some
Jugular lymphatic obstruction sequence Occurrence False Congenital Inferred relationship Some
Cobalamin C disease Occurrence False Congenital Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder) Occurrence False Congenital Inferred relationship Some
Pectus excavatum Occurrence False Congenital Inferred relationship Some
Hydrorhachis Occurrence False Congenital Inferred relationship Some 4
Anomaly of chromosome pair 1 Occurrence False Congenital Inferred relationship Some
Tongue absent Occurrence False Congenital Inferred relationship Some
Congenital atresia of epiglottis Occurrence False Congenital Inferred relationship Some
Congenital coxa vara Occurrence False Congenital Inferred relationship Some
Persistent cloaca (disorder) Occurrence False Congenital Inferred relationship Some
Double outlet right ventricle Occurrence False Congenital Inferred relationship Some
Congenital anomaly of spine Occurrence False Congenital Inferred relationship Some
Congenital absence of inferior vena cava Occurrence False Congenital Inferred relationship Some
Dyskeratosis congenita Occurrence False Congenital Inferred relationship Some
Congenital stricture of ureter Occurrence False Congenital Inferred relationship Some
A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype. Occurrence False Congenital Inferred relationship Some
Congenital ectopic lens Occurrence False Congenital Inferred relationship Some
Acquired traction diverticulum of esophagus Occurrence False Congenital Inferred relationship Some
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including trident aspect of the acetabula and metaphyseal changes. Occurrence False Congenital Inferred relationship Some
Endemic cretinism Occurrence False Congenital Inferred relationship Some
Congenital absence of the spinal cord and brain Occurrence False Congenital Inferred relationship Some
Hereditary edema of legs Occurrence False Congenital Inferred relationship Some
Pseudohermaphroditism Occurrence False Congenital Inferred relationship Some
Persistent tuberculum impar Occurrence False Congenital Inferred relationship Some
Congenital absence of eustachian tube Occurrence False Congenital Inferred relationship Some
Mucopolysaccharidosis, MPS-III-C Occurrence True Congenital Inferred relationship Some 1
Congenital diverticulum of left ventricle Occurrence False Congenital Inferred relationship Some
Congenital absence of ossicles of ear Occurrence False Congenital Inferred relationship Some
Congenital keratoconus posticus circumscriptus Occurrence False Congenital Inferred relationship Some
Symphalangy Occurrence False Congenital Inferred relationship Some
Congenital atresia of external auditory canal Occurrence False Congenital Inferred relationship Some
Congenital anomaly of mitral valve Occurrence False Congenital Inferred relationship Some
Transient neonatal hypertyrosinemia Occurrence False Congenital Inferred relationship Some
Anomalous origin of coronary artery Occurrence False Congenital Inferred relationship Some
Umbilical hernia without obstruction AND without gangrene Occurrence False Congenital Inferred relationship Some
Congenital absence of nipple Occurrence False Congenital Inferred relationship Some
Amyotrophia congenita Occurrence False Congenital Inferred relationship Some
Congenital deformity of chest wall Occurrence False Congenital Inferred relationship Some
Congenital hamartosis Occurrence False Congenital Inferred relationship Some
Mucopolysaccharidosis, MPS-I Occurrence True Congenital Inferred relationship Some 1
Omphalopagus Occurrence False Congenital Inferred relationship Some
Congenital anoperineal fistula Occurrence False Congenital Inferred relationship Some
Familial renal iminoglycinuria Occurrence True Congenital Inferred relationship Some 1
Benign autosomal dominant osteopetrosis Occurrence False Congenital Inferred relationship Some
Lingual goiter Occurrence False Congenital Inferred relationship Some
Congenital absence of testis Occurrence False Congenital Inferred relationship Some
Classical phenylketonuria Occurrence True Congenital Inferred relationship Some 1
Pleonotia Occurrence False Congenital Inferred relationship Some
14q partial trisomy (disorder) Occurrence False Congenital Inferred relationship Some
Dominant dystrophic epidermolysis bullosa, albopapular type Occurrence False Congenital Inferred relationship Some
Brachymegalodactyly Occurrence False Congenital Inferred relationship Some
19q partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Congenital anomaly of face Occurrence False Congenital Inferred relationship Some
Congenital anomaly of ossicles of ear Occurrence False Congenital Inferred relationship Some
Congenital absence of anus Occurrence False Congenital Inferred relationship Some
Brachymetacarpia Occurrence False Congenital Inferred relationship Some
Sotos' syndrome Occurrence False Congenital Inferred relationship Some
Johanson-Blizzard syndrome Occurrence False Congenital Inferred relationship Some
Double urinary meatus Occurrence False Congenital Inferred relationship Some
Platyspondylia Occurrence False Congenital Inferred relationship Some
Agenesis of right lung Occurrence False Congenital Inferred relationship Some
Symmetrical conjoined twins Occurrence False Congenital Inferred relationship Some
Septo-optic dysplasia sequence Occurrence False Congenital Inferred relationship Some 4
Incomplete bilateral cleft palate with cleft lip Occurrence False Congenital Inferred relationship Some
Pulmonary valve anomaly Occurrence False Congenital Inferred relationship Some
acidurie glutarique de type 1 Occurrence False Congenital Inferred relationship Some
orecchio da pipistrello Occurrence False Congenital Inferred relationship Some
Chronic granulomatous disease, type IVA Occurrence False Congenital Inferred relationship Some
Bicuspid cardiac valve Occurrence False Congenital Inferred relationship Some
Rudimentary tracheal bronchus Occurrence False Congenital Inferred relationship Some
Congenital lumbosacral stenosis Occurrence False Congenital Inferred relationship Some
6q partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Incomplete congenital absence of arm AND forearm Occurrence False Congenital Inferred relationship Some 4
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. Occurrence False Congenital Inferred relationship Some
Pilonidal cyst without abscess Occurrence False Congenital Inferred relationship Some
Hyperphosphatasia-osteoectasia syndrome Occurrence False Congenital Inferred relationship Some
Congenital subcapsular cataract Occurrence False Congenital Inferred relationship Some
Mottling of enamel Occurrence False Congenital Inferred relationship Some
Longitudinal deficiency of fibula Occurrence False Congenital Inferred relationship Some
Complete aphalangia of upper limb Occurrence False Congenital Inferred relationship Some
Angelman syndrome Occurrence False Congenital Inferred relationship Some
Junctional epidermolysis bullosa Occurrence False Congenital Inferred relationship Some
A neural tube defect with characteristics of improper closure of the spinal column during embryonal development. In the case of spina bifida occulta the site of the lesion is not exposed, there is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges. Occurrence False Congenital Inferred relationship Some 5
Amyoplasie, kongenitale Occurrence False Congenital Inferred relationship Some
X-linked lymphoproliferative syndrome Occurrence False Congenital Inferred relationship Some 2
syndrome de Di George Occurrence False Congenital Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type Occurrence False Congenital Inferred relationship Some
Thoracopagus epigastricus Occurrence False Congenital Inferred relationship Some
Spina bifida of lumbar region Occurrence False Congenital Inferred relationship Some 5
Complete trisomy 16 syndrome Occurrence False Congenital Inferred relationship Some
Acephalorhachia Occurrence False Congenital Inferred relationship Some
Velamentous insertion of umbilical cord Occurrence False Congenital Inferred relationship Some
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Occurrence False Congenital Inferred relationship Some
Omphaloangiopagus Occurrence False Congenital Inferred relationship Some
Chronic granulomatous disease, type II Occurrence False Congenital Inferred relationship Some
A rare disorder of pyrimidine metabolism with characteristics of a variable phenotype ranging from absence of symptoms to severe neurological involvement with developmental delay, intellectual disability, and seizures. Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behavior, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil. Occurrence False Congenital Inferred relationship Some
Marfanoid mental retardation syndrome Occurrence False Congenital Inferred relationship Some
Disorder of lysine AND/OR hydroxylysine metabolism Occurrence False Congenital Inferred relationship Some
Severe hereditary spherocytosis due to spectrin deficiency Occurrence False Congenital Inferred relationship Some

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