FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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

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
Transitional atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 3
Dicentric chromosome (disorder) Occurrence True Congenital Inferred relationship Some 1
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) Occurrence True Congenital Inferred relationship Some 2
EN1-related dorsoventral syndrome Occurrence True Congenital Inferred relationship Some 1
EN1-related dorsoventral syndrome Occurrence True Congenital Inferred relationship Some 2
EN1-related dorsoventral syndrome Occurrence True Congenital Inferred relationship Some 3
EN1-related dorsoventral syndrome Occurrence True Congenital Inferred relationship Some 4
Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome Occurrence True Congenital Inferred relationship Some 2
CPE-related Prader-Willi-like syndrome Occurrence True Congenital Inferred relationship Some 1
CPE-related Prader-Willi-like syndrome Occurrence True Congenital Inferred relationship Some 2
CPE-related Prader-Willi-like syndrome Occurrence True Congenital Inferred relationship Some 3
Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Non-terminal myelocystocele (disorder) Occurrence True Congenital Inferred relationship Some 1
Non-terminal myelocystocele (disorder) Occurrence True Congenital Inferred relationship Some 2
Non-terminal myelocystocele (disorder) Occurrence True Congenital Inferred relationship Some 3
Non-terminal myelocystocele (disorder) Occurrence True Congenital Inferred relationship Some 4
Congenital dysplasia of bilateral ankle joints (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of bilateral ankle joints (disorder) Occurrence True Congenital Inferred relationship Some 2
Transitional atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 4
Posterior cord syndrome due to vascular malformation Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of musculoskeletal system (disorder) Occurrence True Congenital Inferred relationship Some 1
Macrodactyly of toe of left foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Macrodactyly of toe of right foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital mesocolic hernia Occurrence True Congenital Inferred relationship Some 3
Melorheostosis of right shoulder region Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of right shoulder region Occurrence True Congenital Inferred relationship Some 2
Melorheostosis of left shoulder region (disorder) Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of left shoulder region (disorder) Occurrence True Congenital Inferred relationship Some 2
Melorheostosis of shoulder region (disorder) Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of shoulder region (disorder) Occurrence True Congenital Inferred relationship Some 2
Glucose-galactose malabsorption Occurrence True Congenital Inferred relationship Some 3
Isolated asymmetric crying facies Occurrence True Congenital Inferred relationship Some 1
Asymmetric crying facies syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital calcium pyrophosphate dihydrate crystal deposition disease Occurrence True Congenital Inferred relationship Some 1
Intermediate collagen VI-related muscular dystrophy (disorder) Occurrence True Congenital Inferred relationship Some 1
Benign neoplasm of undescended testis Occurrence True Congenital Inferred relationship Some 2
Carcinoma in situ of undescended testis Occurrence True Congenital Inferred relationship Some 2
Metastatic malignant neoplasm to undescended testis Occurrence True Congenital Inferred relationship Some 2
Neoplasm of uncertain behavior of undescended testis Occurrence True Congenital Inferred relationship Some 1
Neoplasm of undescended testis Occurrence True Congenital Inferred relationship Some 2
Malignant neoplasm of undescended testis Occurrence True Congenital Inferred relationship Some 2
Seminoma of undescended testis Occurrence True Congenital Inferred relationship Some 2
Malignant teratoma of undescended testis (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary seminoma of undescended left testis (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary seminoma of undescended testis (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary seminoma of undescended bilateral testes (disorder) Occurrence True Congenital Inferred relationship Some 3
Primary seminoma of undescended bilateral testes (disorder) Occurrence True Congenital Inferred relationship Some 4
Primary seminoma of undescended right testis (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary malignant neoplasm of undescended testis Occurrence True Congenital Inferred relationship Some 2
Primary malignant neoplasm of bilateral undescended testes (disorder) Occurrence True Congenital Inferred relationship Some 3
Primary malignant neoplasm of bilateral undescended testes (disorder) Occurrence True Congenital Inferred relationship Some 4
Primary malignant neoplasm of undescended right testis (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary malignant neoplasm of undescended left testis (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary nonseminomatous germ cell neoplasm of undescended testis (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary nonseminomatous germ cell neoplasm of right undescended testis (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary nonseminomatous germ cell neoplasm of left undescended testis (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary nonseminomatous germ cell neoplasm of bilateral undescended testes (disorder) Occurrence True Congenital Inferred relationship Some 3
Primary nonseminomatous germ cell neoplasm of bilateral undescended testes (disorder) Occurrence True Congenital Inferred relationship Some 4
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD3 delta subunit of T-cell receptor complex mutation (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD3 epsilon subunit of T-cell receptor complex mutation (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive T- B+ severe combined immunodeficiency due to SLP76 mutation Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated RAC2 defect Occurrence True Congenital Inferred relationship Some 1
Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of esophagus Occurrence True Congenital Inferred relationship Some 1
Non-syndromic congenital stenosis of esophagus Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency Occurrence True Congenital Inferred relationship Some 1
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect, aortic coarctation, eye abnormality, sternal anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect, aortic coarctation, eye abnormality, sternal anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Severe combined immunodeficiency due to BCL11 transcription factor B deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant agammaglobulinaemia due to PU.1 deficiency Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency Occurrence True Congenital Inferred relationship Some 1
Jansen-de Vries syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive agammaglobulinemia due to solute carrier family 39 member 7 deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive agammaglobulinemia due to E47 transcription factor deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant agammaglobulinaemia due to E47 transcription factor deficiency Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive agammaglobulinemia due to p85 deficiency Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive agammaglobulinemia due to p110 delta deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive agammaglobulinaemia due to BLNK deficiency Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive agammaglobulinaemia due to lambda 5 deficiency Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive agammaglobulinemia due to immunoglobulin heavy chain mu constant region deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive agammaglobulinemia due to immunoglobulin beta deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive agammaglobulinaemia due to immunoglobulin alpha deficiency Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive combined immunodeficiency due to Wiskott Aldrich syndrome protein-interacting protein deficiency (disorder) Occurrence True Congenital Inferred relationship Some 3
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect Occurrence True Congenital Inferred relationship Some 3
Alkuraya Kucinskas syndrome Occurrence True Congenital Inferred relationship Some 1
Alkuraya Kucinskas syndrome Occurrence True Congenital Inferred relationship Some 2
Alkuraya Kucinskas syndrome Occurrence True Congenital Inferred relationship Some 3
Alkuraya Kucinskas syndrome Occurrence True Congenital Inferred relationship Some 4
Intellectual disability, cupped ears syndrome Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, early-onset cataract, microcephaly syndrome Occurrence True Congenital Inferred relationship Some 2
Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Benign neoplasm of Meckel's diverticulum Occurrence True Congenital Inferred relationship Some 1
Carcinoma in situ of Meckel's diverticulum Occurrence True Congenital Inferred relationship Some 2
Primary malignant neoplasm of Meckel's diverticulum Occurrence True Congenital Inferred relationship Some 2
Metastatic malignant neoplasm to Meckel's diverticulum Occurrence True Congenital Inferred relationship Some 1
Neoplasm of uncertain behavior of Meckel's diverticulum Occurrence True Congenital Inferred relationship Some 1
Malignant neoplasm of Meckel's diverticulum Occurrence True Congenital Inferred relationship Some 2
Meckel's diverticulitis Occurrence True Congenital Inferred relationship Some 1
Neoplasm of Meckel's diverticulum Occurrence True Congenital Inferred relationship Some 2

Start Previous Page 335 of 338 Next End

This concept is not in any reference sets

Back to Start