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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
380598010 Congenital en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
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 Existential restriction modifier (core metadata concept)
Congenital Is a Fetal and/or neonatal period true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Transitional atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Dicentric chromosome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-terminal myelocystocele (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-terminal myelocystocele (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Non-terminal myelocystocele (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Non-terminal myelocystocele (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Bilateral congenital ankle joint dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral congenital ankle joint dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Transitional atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Posterior cord syndrome due to vascular malformation Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital deformity of musculoskeletal system (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Macrodactyly of toe of left foot (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Macrodactyly of toe of right foot (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital mesocolic hernia (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Melorheostosis of right shoulder region Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of right shoulder region Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Melorheostosis of left shoulder region (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of left shoulder region (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Melorheostosis of shoulder region (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of shoulder region (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Glucose-galactose malabsorption (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital unilateral hypoplasia of depressor anguli oris (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Asymmetric crying facies syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital calcium pyrophosphate dihydrate crystal deposition disease Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Intermediate collagen VI-related muscular dystrophy Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Benign neoplasm of undescended testis (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Carcinoma in situ of undescended testis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Metastatic malignant neoplasm to undescended testis (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Neoplasm of uncertain behaviour of undescended testis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Neoplasm of undescended testis (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Malignant neoplasm of undescended testis (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Seminoma of undescended testis (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Malignant teratoma of undescended testis (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Primary seminoma of left undescended testis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Primary seminoma of undescended testis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Primary seminoma of undescended bilateral testes (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Primary seminoma of undescended bilateral testes (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Primary seminoma of right undescended testis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Primary malignant neoplasm of undescended testis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Primary malignant neoplasm of bilateral undescended testes (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Primary malignant neoplasm of bilateral undescended testes (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Primary malignant neoplasm of undescended right testis (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Primary malignant neoplasm of undescended left testis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Primary nonseminomatous germ cell neoplasm of undescended testis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Primary nonseminomatous germ cell neoplasm of right undescended testis (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Primary nonseminomatous germ cell neoplasm of left undescended testis (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral primary nonseminomatous germ cell neoplasm of undescended testes Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Bilateral primary nonseminomatous germ cell neoplasm of undescended testes Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to SLP76 mutation (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated RAC2 defect Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital stenosis of esophagus Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-syndromic congenital stenosis of esophagus Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive combined immunodeficiency due to complete interleukin 6 cytokine family signal transducer deficiency (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect, aortic coarctation, eye abnormality, sternal anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect, aortic coarctation, eye abnormality, sternal anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe combined immunodeficiency due to BCL11 transcription factor B deficiency (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant agammaglobulinemia due to PU.1 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Jansen-de Vries syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive agammaglobulinemia due to SLC39A7 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive agammaglobulinemia due to E47 transcription factor deficiency (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant agammaglobulinaemia due to E47 transcription factor deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive agammaglobulinemia due to p85 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive agammaglobulinemia due to p110 delta deficiency (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive agammaglobulinemia due to BLNK deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive agammaglobulinaemia due to lambda 5 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive agammaglobulinemia due to immunoglobulin heavy chain mu constant region deficiency (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive agammaglobulinemia due to immunoglobulin beta deficiency (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive agammaglobulinaemia due to immunoglobulin alpha deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive combined immunodeficiency due to Wiskott Aldrich syndrome protein-interacting protein deficiency (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Alkuraya Kucinskas syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Alkuraya Kucinskas syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Alkuraya Kucinskas syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Alkuraya Kucinskas syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Intellectual disability, cupped ears syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Intellectual disability, early-onset cataract, microcephaly syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Benign neoplasm of Meckel's diverticulum (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Carcinoma in situ of Meckel's diverticulum Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Primary malignant neoplasm of Meckel's diverticulum Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Metastatic malignant neoplasm to Meckel's diverticulum (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Neoplasm of uncertain behavior of Meckel's diverticulum Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Malignant neoplasm of Meckel's diverticulum (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Meckel's diverticulitis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Neoplasm of Meckel's diverticulum Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2

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