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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

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
Multiple mitochondrial dysfunctions syndrome type 5 (disorder) Occurrence True Congenital Inferred relationship Some 3
Multiple mitochondrial dysfunctions syndrome type 6 (disorder) Occurrence True Congenital Inferred relationship Some 2
Rupture of congenital aneurysm of cerebral artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Congenital hypoplasia of testis and scrotum (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital occlusion of ureteral orifice (disorder) Occurrence True Congenital Inferred relationship Some 1
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome Occurrence True Congenital Inferred relationship Some 2
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome Occurrence True Congenital Inferred relationship Some 3
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome Occurrence True Congenital Inferred relationship Some 4
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome Occurrence True Congenital Inferred relationship Some 5
Serine biosynthesis pathway deficiency, infantile/juvenile form (disorder) Occurrence True Congenital Inferred relationship Some 1
Right streak ovary (disorder) Occurrence True Congenital Inferred relationship Some 1
Left streak ovary (disorder) Occurrence True Congenital Inferred relationship Some 1
Fanconi anemia of complementation group C Occurrence True Congenital Inferred relationship Some 1
Isolated aplasia of optic nerve (disorder) Occurrence True Congenital Inferred relationship Some 1
Triopia Occurrence True Congenital Inferred relationship Some 1
Triopia Occurrence True Congenital Inferred relationship Some 2
Triopia Occurrence True Congenital Inferred relationship Some 3
Triopia Occurrence True Congenital Inferred relationship Some 4
Inverse Klippel Trénaunay syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Inverse Klippel Trénaunay syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Inverse Klippel Trénaunay syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Lysosomal storage disease (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Sphingolipid activator protein 1 deficiency Occurrence True Congenital Inferred relationship Some 3
Metachromatic leukodystrophy without arylsulfatase deficiency Occurrence True Congenital Inferred relationship Some 3
Metachromatic leucodystrophy, juvenile type Occurrence True Congenital Inferred relationship Some 3
Metachromatic leukodystrophy, late infantile type Occurrence True Congenital Inferred relationship Some 3
Gaucher's disease Occurrence True Congenital Inferred relationship Some 1
Galactosylceramide beta-galactosidase deficiency Occurrence True Congenital Inferred relationship Some 3
Sphingolipidosis Occurrence True Congenital Inferred relationship Some 1
Galactocerebroside beta-galactosidase deficiency - early onset Occurrence True Congenital Inferred relationship Some 3
Arylsulfatase A deficiency Occurrence True Congenital Inferred relationship Some 3
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator Occurrence True Congenital Inferred relationship Some 3
Metachromatic leucodystrophy (disorder) Occurrence True Congenital Inferred relationship Some 3
Perinatal lethal Gaucher disease (disorder) Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive cerebellar ataxia with late-onset spasticity Occurrence True Congenital Inferred relationship Some 2
Metachromatic leukodystrophy, adult type Occurrence True Congenital Inferred relationship Some 3
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder) Occurrence True Congenital Inferred relationship Some 4
Dystonia due to metachromatic leucodystrophy (disorder) Occurrence True Congenital Inferred relationship Some 6
Chronic non-neuropathic Gaucher's disease Occurrence True Congenital Inferred relationship Some 2
Atypical Gaucher disease due to saposin C deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Acute neuronopathic Gaucher's disease Occurrence True Congenital Inferred relationship Some 3
Severe hereditary factor IX deficiency disease with high response inhibitor Occurrence True Congenital Inferred relationship Some 2
Severe hereditary factor IX deficiency disease with low response inhibitor (disorder) Occurrence True Congenital Inferred relationship Some 2
Moderate hereditary factor IX deficiency disease with high response inhibitor Occurrence True Congenital Inferred relationship Some 2
Moderate hereditary factor IX deficiency disease with low response inhibitor (disorder) Occurrence True Congenital Inferred relationship Some 2
Mild hereditary factor IX deficiency disease with high response inhibitor Occurrence True Congenital Inferred relationship Some 2
Mild hereditary factor IX deficiency disease with low response inhibitor (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital malformation of right renal vein (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital malformation of left renal vein (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital malformation of renal vein Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of left renal vein (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of right renal vein (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of renal vein (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anterior staphyloma Occurrence True Congenital Inferred relationship Some 2
Congenital anterior staphyloma Occurrence True Congenital Inferred relationship Some 4
Congenital anterior staphyloma Occurrence True Congenital Inferred relationship Some 5
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type Occurrence True Congenital Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type Occurrence True Congenital Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder) Occurrence True Congenital Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder) Occurrence True Congenital Inferred relationship Some 3
Haemoglobin D beta plus thalassaemia Occurrence True Congenital Inferred relationship Some 1
Haemoglobin E beta plus thalassaemia Occurrence True Congenital Inferred relationship Some 1
Haemoglobin C beta plus thalassaemia Occurrence True Congenital Inferred relationship Some 1
Hemoglobin E beta zero thalassemia Occurrence True Congenital Inferred relationship Some 1
Hemoglobin D beta zero thalassemia (disorder) Occurrence True Congenital Inferred relationship Some 1
Haemoglobin C beta zero thalassaemia Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of bilateral upper limbs (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of bilateral upper limbs (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital melanocytic nevus of skin of left lower eyelid Occurrence True Congenital Inferred relationship Some 1
Congenital melanocytic nevus of skin of right lower eyelid Occurrence True Congenital Inferred relationship Some 1
Congenital melanocytic naevus of skin of right upper eyelid Occurrence True Congenital Inferred relationship Some 1
Congenital melanocytic naevus of skin of lower eyelid Occurrence True Congenital Inferred relationship Some 1
Congenital melanocytic nevus of skin of upper eyelid (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital melanocytic nevus of skin of left upper eyelid Occurrence True Congenital Inferred relationship Some 1
Ehlers-Danlos syndrome classic type 2 Occurrence True Congenital Inferred relationship Some 1
Ehlers-Danlos syndrome classic type 2 Occurrence True Congenital Inferred relationship Some 2
Ehlers-Danlos syndrome classic type 2 Occurrence True Congenital Inferred relationship Some 3
Congenital anomaly of blood vessels of bilateral lower limbs (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of blood vessels of bilateral lower limbs (disorder) Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital anomaly of blood vessels of upper limbs Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital anomaly of blood vessels of upper limbs Occurrence True Congenital Inferred relationship Some 2
Congenital arteriovenous malformation of bilateral lower limbs (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital arteriovenous malformation of bilateral lower limbs (disorder) Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital stenosis of renal arteries Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital stenosis of renal arteries Occurrence True Congenital Inferred relationship Some 2
Congenital arteriovenous malformation of bilateral upper limbs (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital arteriovenous malformation of bilateral upper limbs (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital arteriovenous malformation of bilateral renal arteries and bilateral renal veins (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital arteriovenous malformation of bilateral renal arteries and bilateral renal veins (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital cutaneous mastocytosis Occurrence True Congenital Inferred relationship Some 2
Delta beta thalassemia trait (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of bilateral renal veins (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of bilateral renal veins (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital keratoglobus Occurrence True Congenital Inferred relationship Some 2
Congenital arteriovenous malformation of bilateral renal arteries and bilateral renal veins (disorder) Occurrence True Congenital Inferred relationship Some 3

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