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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
A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. Occurrence False Congenital Inferred relationship Some 4
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978. Occurrence True Congenital Inferred relationship Some 3
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978. Occurrence True Congenital Inferred relationship Some 4
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978. Occurrence False Congenital Inferred relationship Some 5
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Occurrence False Congenital Inferred relationship Some 4
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Occurrence False Congenital Inferred relationship Some 5
16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems. Occurrence True Congenital Inferred relationship Some 1
Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy. Occurrence True Congenital Inferred relationship Some 1
Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. Occurrence False Congenital Inferred relationship Some 3
Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. Occurrence False Congenital Inferred relationship Some 5
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. Occurrence False Congenital Inferred relationship Some 3
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. Occurrence True Congenital Inferred relationship Some 4
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. Occurrence False Congenital Inferred relationship Some 2
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. Occurrence False Congenital Inferred relationship Some 3
Distal myopathy with early respiratory muscle involvement Occurrence False Congenital Inferred relationship Some 2
Distal myopathy with early respiratory muscle involvement Occurrence False Congenital Inferred relationship Some 3
A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors. Occurrence False Congenital Inferred relationship Some 3
A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors. Occurrence False Congenital Inferred relationship Some 4
A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors. Occurrence False Congenital Inferred relationship Some 5
Thalassemia intermedia Occurrence True Congenital Inferred relationship Some 3
A severe form of alpha-thalassemia that is mostly lethal and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. Occurrence True Congenital Inferred relationship Some 3
A>gamma< beta^+^ HPFH AND beta^0^ thalassaemia in cis Occurrence True Congenital Inferred relationship Some 3
Hemoglobin D trait Occurrence True Congenital Inferred relationship Some 1
beta^+^ Thalassemia, normal Hb A>2<, type 2 Occurrence True Congenital Inferred relationship Some 3
Delta beta thalassemia (disorder) Occurrence True Congenital Inferred relationship Some 3
Sickle cell trait Occurrence True Congenital Inferred relationship Some 1
Delta thalassaemia Occurrence True Congenital Inferred relationship Some 3
Hereditary persistence of fetal hemoglobin thalassemia Occurrence True Congenital Inferred relationship Some 3
Unstable hemoglobin disease Occurrence True Congenital Inferred relationship Some 1
Heterozygous thalassemia Occurrence True Congenital Inferred relationship Some 3
Double heterozygous sickling disorder Occurrence True Congenital Inferred relationship Some 1
Epsilon gamma delta beta thalassemia Occurrence True Congenital Inferred relationship Some 3
Hemoglobin E disease Occurrence True Congenital Inferred relationship Some 1
Sickle cell-hemoglobin D disease Occurrence True Congenital Inferred relationship Some 1
Homozygous beta thalassemia Occurrence True Congenital Inferred relationship Some 3
Beta zero thalassemia deletion type Occurrence True Congenital Inferred relationship Some 3
HPFH unlinked to beta-globulin gene cluster Occurrence True Congenital Inferred relationship Some 3
Sickle cell-hemoglobin C disease Occurrence True Congenital Inferred relationship Some 1
Alpha plus thalassemia Occurrence True Congenital Inferred relationship Some 3
Sickle cell-thalassemia disease Occurrence True Congenital Inferred relationship Some 4
HPFH A gamma beta^+^ thalassemia Occurrence True Congenital Inferred relationship Some 3
Thalassemia Occurrence True Congenital Inferred relationship Some 3
Hemoglobin E trait Occurrence True Congenital Inferred relationship Some 1
Sickle cell-hemoglobin E disease Occurrence True Congenital Inferred relationship Some 1
Thalassemia with other hemoglobinopathy Occurrence True Congenital Inferred relationship Some 3
Beta plus thalassemia normal hemoglobin A>2< type 1 silent (disorder) Occurrence True Congenital Inferred relationship Some 3
Hemoglobin H disease Occurrence True Congenital Inferred relationship Some 3
Hemoglobin C disease Occurrence True Congenital Inferred relationship Some 1
Hereditary persistence of fetal hemoglobin delta beta plus thalassemia (disorder) Occurrence True Congenital Inferred relationship Some 3
Hereditary persistence of fetal hemoglobin, nondeletion type (disorder) Occurrence True Congenital Inferred relationship Some 3
Hereditary persistence of fetal hemoglobin G gamma beta plus thalassemia Occurrence True Congenital Inferred relationship Some 3
Thalassemia-hemoglobin C disease Occurrence True Congenital Inferred relationship Some 3
Delta zero thalassemia (disorder) Occurrence True Congenital Inferred relationship Some 3
Beta thalassemia Occurrence True Congenital Inferred relationship Some 3
Alpha zero thalassemia Occurrence True Congenital Inferred relationship Some 3
Hemoglobin D disease Occurrence True Congenital Inferred relationship Some 1
Alpha thalassemia (disorder) Occurrence True Congenital Inferred relationship Some 3
Hb Lepore thalassemia Occurrence True Congenital Inferred relationship Some 3
Epsilon gamma delta beta^0^ thalassemia Occurrence True Congenital Inferred relationship Some 3
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 True Congenital Inferred relationship Some 1
Thalassemia major Occurrence True Congenital Inferred relationship Some 3
Hemoglobin C trait Occurrence True Congenital Inferred relationship Some 1
Delta beta zero thalassemia Occurrence True Congenital Inferred relationship Some 3
Beta plus thalassemia Occurrence True Congenital Inferred relationship Some 3
Thalassemia syndrome Occurrence True Congenital Inferred relationship Some 3
Alpha plus thalassemia non deletion type (disorder) Occurrence True Congenital Inferred relationship Some 3
HPFH deletion type Occurrence True Congenital Inferred relationship Some 3
Alpha plus thalassaemia deletion type Occurrence True Congenital Inferred relationship Some 3
Beta zero thalassemia Occurrence True Congenital Inferred relationship Some 3
HPFH linked to beta-globulin gene cluster Occurrence True Congenital Inferred relationship Some 3
^A^gamma delta beta^0^ thalassemia (disorder) Occurrence True Congenital Inferred relationship Some 3
Beta zero thalassemia non deletion type (disorder) Occurrence True Congenital Inferred relationship Some 3
Homozygous hemoglobinopathy Occurrence True Congenital Inferred relationship Some 1
Heterozygous hemoglobinopathy Occurrence True Congenital Inferred relationship Some 1
Hereditary hemoglobinopathy due to globin chain mutation Occurrence True Congenital Inferred relationship Some 1
Sickle cell-hemoglobin SS disease Occurrence True Congenital Inferred relationship Some 3
Sickle cell-beta-thalassemia Occurrence True Congenital Inferred relationship Some 4
Sickle cell beta plus thalassaemia Occurrence True Congenital Inferred relationship Some 4
Sickle cell-beta^0^-thalassemia Occurrence True Congenital Inferred relationship Some 4
Sickle cell-delta beta^0^-thalassemia Occurrence True Congenital Inferred relationship Some 4
Sickle cell anemia with coexistent alpha-thalassemia Occurrence True Congenital Inferred relationship Some 4
Sickle cell trait with coexistent alpha-thalassemia Occurrence True Congenital Inferred relationship Some 3
Sickle cell-hemoglobin Lepore disease Occurrence True Congenital Inferred relationship Some 1
Sickle cell-Hemoglobin O Arab disease Occurrence True Congenital Inferred relationship Some 1
Alpha trait thalassemia Occurrence True Congenital Inferred relationship Some 3
Beta thalassaemia intermedia Occurrence True Congenital Inferred relationship Some 3
Hereditary persistence of fetal hemoglobin (disorder) Occurrence True Congenital Inferred relationship Some 1
Homozygous alpha thalassemia Occurrence True Congenital Inferred relationship Some 3
Alpha thalassemia-2 trait Occurrence True Congenital Inferred relationship Some 3
Haemoglobin Constant Spring trait Occurrence True Congenital Inferred relationship Some 3
Hemoglobin Lepore trait Occurrence True Congenital Inferred relationship Some 3
Delta-beta-Lepore thalassaemia Occurrence True Congenital Inferred relationship Some 3
Alpha-beta thalassemia Occurrence True Congenital Inferred relationship Some 3
Gamma thalassaemia Occurrence True Congenital Inferred relationship Some 3
Sickle cell anemia with high hemoglobin F Occurrence True Congenital Inferred relationship Some 4
Hemoglobin E/beta thalassemia disease Occurrence True Congenital Inferred relationship Some 1
Congenital methemoglobinemia with abnormal methemoglobins Occurrence True Congenital Inferred relationship Some 1
Beta thalassaemia trait Occurrence True Congenital Inferred relationship Some 3
Alpha thalassemia-mental retardation syndrome Occurrence False Congenital Inferred relationship Some 3
Acquired haemoglobin H disease Occurrence True Congenital Inferred relationship Some 3
Hemoglobin SS disease without crisis (disorder) Occurrence True Congenital Inferred relationship Some 3

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