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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
Congenital ankylosis of interphalangeal joint of middle finger Occurrence True Congenital Inferred relationship Some 1
Congenital ankylosis of interphalangeal joint of ring finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital ankylosis of interphalangeal joint of little finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital ankylosis of proximal interphalangeal joint of third toe Occurrence True Congenital Inferred relationship Some 1
Congenital ankylosis of proximal interphalangeal joint of fourth toe Occurrence True Congenital Inferred relationship Some 1
Congenital ankylosis of interphalangeal joint of hand (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital ankylosis of proximal interphalangeal joint of fifth toe Occurrence True Congenital Inferred relationship Some 1
Congenital ankylosis of proximal interphalangeal joint of middle finger Occurrence True Congenital Inferred relationship Some 1
Congenital ankylosis of proximal interphalangeal joint of ring finger Occurrence True Congenital Inferred relationship Some 1
Congenital ankylosis of proximal interphalangeal joint of little finger Occurrence True Congenital Inferred relationship Some 1
Congenital ankylosis of proximal interphalangeal joint of index finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital ankylosis of proximal interphalangeal joint of second toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of posterior pituitary Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of anterior pituitary Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of cerebral white matter (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of frontal lobe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital clinodactyly of ring finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital clinodactyly of middle finger Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of cerebral hemisphere Occurrence True Congenital Inferred relationship Some 1
Congenital clinodactyly of index finger Occurrence True Congenital Inferred relationship Some 1
Congenital clinodactyly of distal phalanx of little finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of pars basalis of pons (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of eyebrow Occurrence True Congenital Inferred relationship Some 1
Congenital clinodactyly of great toe Occurrence True Congenital Inferred relationship Some 1
Congenital clinodactyly of third toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital clinodactyly of second toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital clinodactyly of fifth toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of brainstem Occurrence True Congenital Inferred relationship Some 1
Congenital clinodactyly of fourth toe Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of inferior vermis (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal fusion of first metacarpal bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal fusion of first metatarsal bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal fusion of fourth metacarpal bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital midline raphe of philtrum Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal fusion of fifth metacarpal bone Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal fusion of carpal and metacarpal bone Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal fusion of carpal and metacarpal bone Occurrence True Congenital Inferred relationship Some 2
Congenital synostosis of metacarpal bone with proximal phalanx of hand Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal fusion of bones of foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal fusion of bones of hand Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal fusion of bones of upper limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital synostosis of coronal suture of skull Occurrence True Congenital Inferred relationship Some 1
Congenital synostosis of all sutures of skull (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal fusion of second metacarpal bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal fusion of third metacarpal bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital synostosis of proximal phalanx of great toe with first metatarsal bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital synostosis of second metacarpal bone with trapezoid bone Occurrence True Congenital Inferred relationship Some 1
Congenital synostosis of second metacarpal bone with trapezoid bone Occurrence True Congenital Inferred relationship Some 2
Congenital synostosis of proximal phalanx of thumb with first metacarpal bone Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal fusion of phalanx of thumb Occurrence True Congenital Inferred relationship Some 1
Congenital synostosis of tarsal and metatarsal bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital synostosis of right coronal suture of skull (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal fusion of phalanx of foot Occurrence True Congenital Inferred relationship Some 1
Congenital synostosis of left coronal suture of skull (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital synostosis of right side of lambdoid suture of skull (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital synostosis of left side of lambdoid suture of skull (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal fusion of scapula with humerus bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal fusion of scapula with humerus bone (disorder) Occurrence True Congenital Inferred relationship Some 2
Lethal congenital disproportionate short trunk short stature Occurrence True Congenital Inferred relationship Some 1
Lethal congenital disproportionate short limbed short stature (disorder) Occurrence True Congenital Inferred relationship Some 1
Solitary congenital hypertrophy of retinal pigment epithelium (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital fecaliths causing obstruction (disorder) Occurrence True Congenital Inferred relationship Some 1
Hydroxymethylglutaric aciduria (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin. Clinical manifestations are typically characterized by early-onset muscular hypotonia, movement disorders (oculogyric crisis, dystonia), developmental delay, ptosis and non-motor symptoms (sleep disturbance, irritability, excessive sweating, and nasal congestion). Occurrence True Congenital Inferred relationship Some 3
Congenital abnormal broad shape of phalanx of fourth toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of phalanx of fifth toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of phalanx (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of phalanx of foot Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of phalanx of great toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of phalanx of second toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of phalanx of third toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of phalanx of index finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of phalanx of middle finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of phalanx of hand Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of phalanx of little finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of phalanx of ring finger Occurrence True Congenital Inferred relationship Some 1
Thanatophoric dysplasia Occurrence True Congenital Inferred relationship Some 3
Atelosteogenesis type 2 Occurrence True Congenital Inferred relationship Some 5
Thanatophoric dysplasia, type 1 (disorder) Occurrence True Congenital Inferred relationship Some 3
Thanatophoric dysplasia, type 2 (disorder) Occurrence True Congenital Inferred relationship Some 3
Focal cortical dysplasia with abnormal architectural distortion of cortical layer Blumcke type III (disorder) Occurrence True Congenital Inferred relationship Some 1
Focal cortical dysplasia with abnormal architectural distortion of cortical layer within temporal lobe with hippocampal atrophy Blumcke type IIIa Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of deciduous tooth (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported. Occurrence True Congenital Inferred relationship Some 10
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, moderate to severe intellectual disability, language delay and asymptomatic persistence of fetal hemoglobin. Joint laxity and microcephaly are commonly observed. Majority of the patients present with variable dysmorphic features (including strabismus, downslanting palpebral fissures, anteverted nose with small nares and full tip, external ear anomalies, thin upper lip and everted lower lip). Behavior problems including anxiety, recurrent hand flapping/biting and attention deficit can also be observed. Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, moderate to severe intellectual disability, language delay and asymptomatic persistence of fetal hemoglobin. Joint laxity and microcephaly are commonly observed. Majority of the patients present with variable dysmorphic features (including strabismus, downslanting palpebral fissures, anteverted nose with small nares and full tip, external ear anomalies, thin upper lip and everted lower lip). Behavior problems including anxiety, recurrent hand flapping/biting and attention deficit can also be observed. Occurrence True Congenital Inferred relationship Some 2
Congenital hypoplasia of apex of nose (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of bone of radius and/or ulna (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of bone structure of first rib (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of bone of head and neck of femur (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of bone of head and neck of femur (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital hypoplasia of bilateral breast (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of bilateral breast (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital hypoplasia of bone of pelvis (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of bone of extremity (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of bone of cranium (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of bone of lower limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of bone of upper limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of bone of thorax (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of bone of hand (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of auricular cartilage (disorder) Occurrence True Congenital Inferred relationship Some 1

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