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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
A rare mitochondrial disease characterized by early infantile onset of progressive neurological deterioration with seizures, spasticity, and lack of psychomotor development. Brain imaging shows severe leukodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare mitochondrial disease characterised by onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia, or optic atrophy, among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Rupture of congenital aneurysm of cerebral artery (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital hypoplasia of testis and scrotum Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital occlusion of ureteral orifice (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 5
A rare inborn error of metabolism comprising 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoserine phosphatase deficiency, and phosphoserine aminotransferase deficiency, and characterized by a phenotypic spectrum ranging from congenital microcephaly, psychomotor retardation, and intractable seizures in the infantile forms to milder juvenile forms with moderate developmental delay and intellectual disability. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Right streak ovary (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Left streak ovary (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Fanconi anemia of complementation group C Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated aplasia of optic nerve (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Triopia Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Triopia Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Triopia Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Triopia Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Inverse Klippel Trénaunay syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Inverse Klippel Trénaunay syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Inverse Klippel Trénaunay syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Lysosomal storage disease (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of limb (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Sphingolipid activator protein 1 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Metachromatic leukodystrophy without arylsulfatase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Metachromatic leucodystrophy, juvenile type Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Metachromatic leukodystrophy, late infantile type Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Gaucher's disease Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Galactosylceramide beta-galactosidase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Sphingolipidosis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Galactocerebroside beta-galactosidase deficiency - early onset (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Arylsulfatase A deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Metachromatic leukodystrophy Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Perinatal lethal Gaucher disease Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive cerebellar ataxia with late-onset spasticity Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Metachromatic leucodystrophy, adult type Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Dystonia due to metachromatic leucodystrophy (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 6
Chronic non-neuropathic Gaucher's disease Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Atypical Gaucher disease due to saposin C deficiency (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Acute neuronopathic Gaucher's disease (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe hereditary factor IX deficiency disease with high response inhibitor Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe hereditary factor IX deficiency disease with low response inhibitor (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Moderate hereditary factor IX deficiency disease with high response inhibitor Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Moderate hereditary factor IX deficiency disease with low response inhibitor (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Mild hereditary factor IX deficiency disease with high response inhibitor Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Mild hereditary factor IX deficiency disease with low response inhibitor (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital malformation of right renal vein (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malformation of left renal vein (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malformation of renal vein Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of left renal vein (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of right renal vein Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of renal vein Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anterior staphyloma Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anterior staphyloma Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital anterior staphyloma Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 5
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Haemoglobin D beta plus thalassaemia Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Haemoglobin E beta plus thalassaemia Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Haemoglobin C beta plus thalassaemia Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemoglobin E beta zero thalassemia (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemoglobin D beta zero thalassemia (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemoglobin C beta zero thalassemia (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral congenital pigmented melanocytic naevus of skin of upper limbs Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral congenital pigmented melanocytic naevus of skin of upper limbs Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital melanocytic nevus of skin of left lower eyelid Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital melanocytic nevus of skin of right lower eyelid Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital melanocytic naevus of skin of right upper eyelid Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital melanocytic naevus of skin of lower eyelid Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital melanocytic nevus of skin of upper eyelid (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital melanocytic nevus of skin of left upper eyelid Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome classic type 2 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome classic type 2 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome classic type 2 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Bilateral congenital anomaly of blood vessels of lower limbs Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral congenital anomaly of blood vessels of lower limbs Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral congenital anomaly of blood vessels of upper limbs Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral congenital anomaly of blood vessels of upper limbs Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital arteriovenous malformation of bilateral lower limbs (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital arteriovenous malformation of bilateral lower limbs (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital stenosis of bilateral renal arteries (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital stenosis of bilateral renal arteries (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral congenital arteriovenous malformation of upper limbs Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral congenital arteriovenous malformation of upper limbs Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital arteriovenous malformation of bilateral renal arteries and bilateral renal veins (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital arteriovenous malformation of bilateral renal arteries and bilateral renal veins (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital cutaneous mastocytosis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Delta beta thalassemia trait (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of bilateral renal veins (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of bilateral renal veins (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital keratoglobus Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital arteriovenous malformation of bilateral renal arteries and bilateral renal veins (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3

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