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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 cardiospasm Occurrence False Congenital Inferred relationship Some
Reduction deformity of upper limb Occurrence False Congenital Inferred relationship Some
Familial methionine malabsorption Occurrence False Congenital Inferred relationship Some
Pelvis plana Occurrence False Congenital Inferred relationship Some
Acquired pectus carinatum Occurrence False Congenital Inferred relationship Some
Congenital shortening of tendon Occurrence False Congenital Inferred relationship Some
Ruvalcaba-Myhre syndrome Occurrence False Congenital Inferred relationship Some
Robin sequence Occurrence False Congenital Inferred relationship Some
Maffucci syndrome Occurrence False Congenital Inferred relationship Some
Parasitic twin of asymmetrical conjoined twins (disorder) Occurrence False Congenital Inferred relationship Some
Acquired genu recurvatum Occurrence False Congenital Inferred relationship Some
Early latent congenital syphilis, positive serology, negative spinal fluid (disorder) Occurrence False Congenital Inferred relationship Some
Congenital obstruction of neck of urinary bladder Occurrence False Congenital Inferred relationship Some
Multiple renal arteries Occurrence False Congenital Inferred relationship Some
Assimilation pelvis Occurrence False Congenital Inferred relationship Some
Buphthalmos with congenital lens dislocation Occurrence False Congenital Inferred relationship Some
Aminoacidemia Occurrence False Congenital Inferred relationship Some
Congenital heart block Occurrence False Congenital Inferred relationship Some
Von Hippel-Lindau syndrome Occurrence False Congenital Inferred relationship Some
Female infertility due to structural congenital anomaly of vagina Occurrence False Congenital Inferred relationship Some
Pyruvate dehydrogenase complex deficiency Occurrence True Congenital Inferred relationship Some 1
Dicephalus dipus dibrachius Occurrence False Congenital Inferred relationship Some
Congenital anomaly of pleural folds Occurrence False Congenital Inferred relationship Some
Estren-Dameshek anemia Occurrence False Congenital Inferred relationship Some
Familial juvenile hyperuricemic nephropathy (disorder) Occurrence False Congenital Inferred relationship Some
Developmental displacement of brachial plexus Occurrence False Congenital Inferred relationship Some
Congenital anomaly of pancreas Occurrence False Congenital Inferred relationship Some
Congenital duplication of gallbladder Occurrence False Congenital Inferred relationship Some
Agenesis of left lung Occurrence False Congenital Inferred relationship Some
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Occurrence False Congenital Inferred relationship Some
Inherited disorder of folate metabolism Occurrence True Congenital Inferred relationship Some 1
Congenital hiatus hernia Occurrence False Congenital Inferred relationship Some
Congenital hydrocephalus Occurrence False Congenital Inferred relationship Some
Septate vagina Occurrence False Congenital Inferred relationship Some
Congenital web of larynx Occurrence False Congenital Inferred relationship Some
Congenital pneumonia caused by rubella (disorder) Occurrence False Congenital Inferred relationship Some
Congenital anomaly of bile ducts Occurrence False Congenital Inferred relationship Some
Congenital leukonychia Occurrence False Congenital Inferred relationship Some
Congenital anomaly of lung Occurrence False Congenital Inferred relationship Some
Long tubular intestinal duplication Occurrence False Congenital Inferred relationship Some
Congenital absence of femur Occurrence False Congenital Inferred relationship Some
raccourcissement congénital d'une jambe Occurrence False Congenital Inferred relationship Some
A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term Waardenburg syndrome (WS). Occurrence False Congenital Inferred relationship Some
Naso-palatine duct cyst Occurrence False Congenital Inferred relationship Some
Rieger syndrome Occurrence False Congenital Inferred relationship Some
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin Occurrence False Congenital Inferred relationship Some
HNSHA due to NADH diaphorase deficiency Occurrence True Congenital Inferred relationship Some 5
CHARGE syndrome is a multiple congenital anomaly syndrome characterised by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). Occurrence False Congenital Inferred relationship Some
Congenital anomaly of the pelvis Occurrence False Congenital Inferred relationship Some
Secondary porphyria Occurrence False Congenital Inferred relationship Some
Orotic aciduria Occurrence False Congenital Inferred relationship Some
Metachromatic leukodystrophy, late infantile type Occurrence False Congenital Inferred relationship Some
Incomplete bilateral cleft palate Occurrence False Congenital Inferred relationship Some
Congenital absence of humerus Occurrence False Congenital Inferred relationship Some
Hypervalinemia Occurrence True Congenital Inferred relationship Some 1
Corticosterone 18-monooxygenase deficiency Occurrence False Congenital Inferred relationship Some
Congenital absence of muscle AND/OR tendon Occurrence False Congenital Inferred relationship Some
Congenital emphysema (disorder) Occurrence False Congenital Inferred relationship Some
Glutathionemia Occurrence False Congenital Inferred relationship Some
Manus vara Occurrence False Congenital Inferred relationship Some
Pelvis justo minor Occurrence False Congenital Inferred relationship Some
Congenital calculus of kidney Occurrence False Congenital Inferred relationship Some
Acrocephaly Occurrence False Congenital Inferred relationship Some
Anomaly of chromosome pair 8 Occurrence False Congenital Inferred relationship Some
Congenital cardiomegaly Occurrence False Congenital Inferred relationship Some
Otocephalic syndrome Occurrence False Congenital Inferred relationship Some
Meckel's diverticulitis Occurrence False Congenital Inferred relationship Some
Congenital anisocoria Occurrence False Congenital Inferred relationship Some
Disorder of lipoprotein AND/OR lipid metabolism Occurrence False Congenital Inferred relationship Some
Congenital absence of finger Occurrence False Congenital Inferred relationship Some
Congenital dislocation of hip Occurrence False Congenital Inferred relationship Some
Congenital stricture of urinary meatus Occurrence False Congenital Inferred relationship Some
Congenital pseudoporencephaly Occurrence True Congenital Inferred relationship Some 1
Gouty arthritis Occurrence False Congenital Inferred relationship Some
Congenital macrodactyly (disorder) Occurrence False Congenital Inferred relationship Some
Metatarsus varus Occurrence False Congenital Inferred relationship Some
Congenital atresia of cardiac vein Occurrence False Congenital Inferred relationship Some
Recessive dystrophic epidermolysis bullosa Occurrence False Congenital Inferred relationship Some
Nevus of Ito Occurrence False Congenital Inferred relationship Some
Hypomyelinogenesis congenita Occurrence False Congenital Inferred relationship Some
Accessory parotid gland Occurrence False Congenital Inferred relationship Some
Darier disease Occurrence False Congenital Inferred relationship Some
Multiple malformation syndrome with early overgrowth Occurrence False Congenital Inferred relationship Some
Congenital hypertrophic pyloric stenosis Occurrence False Congenital Inferred relationship Some
Accessory fallopian tube Occurrence False Congenital Inferred relationship Some
Roberts-SC phocomelia syndrome Occurrence False Congenital Inferred relationship Some
11q partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
10p partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Congenital hernia of foramen of Morgagni Occurrence False Congenital Inferred relationship Some
Cranioschisis Occurrence False Congenital Inferred relationship Some
Congenital nephrotic syndrome Occurrence False Congenital Inferred relationship Some
17q partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit. Occurrence True Congenital Inferred relationship Some 2
Congenital obstruction of urethra Occurrence False Congenital Inferred relationship Some
Malrotation of kidney (disorder) Occurrence False Congenital Inferred relationship Some
17 alpha-Hydroxyprogesterone aldolase deficiency Occurrence False Congenital Inferred relationship Some
4p partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Duhamel's syndrome Occurrence False Congenital Inferred relationship Some
Uric acid level above reference range (finding) Occurrence False Congenital Inferred relationship Some
Deficiency of acetyl-coenzyme A carboxylase (disorder) Occurrence True Congenital Inferred relationship Some 1
Supernumerary ear lobule Occurrence False Congenital Inferred relationship Some

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