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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
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Occurrence True Congenital Inferred relationship Some 4
A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). Occurrence True Congenital Inferred relationship Some 1
A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). Occurrence True Congenital Inferred relationship Some 2
A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). Occurrence True Congenital Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome characterised by eye abnormalities (including unilateral/bilateral microphthalmia, coloboma, unilateral ptosis and lens opacity) in addition to failure to thrive, renal anomalies (mainly horseshoe kidney, however ureteral-pelvic junction dysfunction and vesicoureteral reflux were also reported), imperforate anus and global developmental delay. Majority of the patients also present with hearing impairment, cardiac anomalies and dysmorphic features (triangular face, hypoplastic alae nasi, beaked nose, and small pointed chin). Occurrence True Congenital Inferred relationship Some 1
A rare primary bone dysplasia characterised by severe spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis. Brain anomalies (including delayed myelinisation, white matter hyperintensity, hypomyelinating leucoencephalopathy, cerebral and cerebellar hypoplasia/atrophy), hypotonia, ataxia, dysmorphic facial features (including deep nasal bridge and large mouth) and irregular dentition were also reported. Occurrence True Congenital Inferred relationship Some 1
A rare primary bone dysplasia characterised by severe spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis. Brain anomalies (including delayed myelinisation, white matter hyperintensity, hypomyelinating leucoencephalopathy, cerebral and cerebellar hypoplasia/atrophy), hypotonia, ataxia, dysmorphic facial features (including deep nasal bridge and large mouth) and irregular dentition were also reported. Occurrence True Congenital Inferred relationship Some 2
Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders. Occurrence True Congenital Inferred relationship Some 1
2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. Occurrence True Congenital Inferred relationship Some 3
2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. Occurrence True Congenital Inferred relationship Some 4
Congenital abnormal broad shape of middle phalanx of second toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of middle phalanx of finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of distal phalanx of finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of middle phalanx of foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of distal phalanx of great toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of distal phalanx of second toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of distal phalanx of thumb Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of middle phalanx of little finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of middle phalanx of ring finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of distal phalanx of middle finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of middle phalanx of fourth toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of distal phalanx of index finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of distal phalanx of little finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of middle phalanx of fifth toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of distal phalanx of foot Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of middle phalanx of third toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of distal phalanx of ring finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of middle phalanx of index finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of distal phalanx of third toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of distal phalanx of fourth toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of distal phalanx of fifth toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of middle phalanx of middle finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of proximal phalanx of foot Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of proximal phalanx of great toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of proximal phalanx of second toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of proximal phalanx of third toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of proximal phalanx of fourth toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape proximal phalanx of little finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of proximal phalanx of fifth toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of proximal phalanx of finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of proximal phalanx of thumb (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of proximal phalanx of middle finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of proximal phalanx of index finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal broad shape of proximal phalanx of ring finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of distal phalanx of great toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of distal phalanx of second toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of distal phalanx of third toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of distal phalanx of fourth toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of distal phalanx of little toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of middle phalanx of foot Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of middle phalanx of second toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of middle phalanx of third toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of middle phalanx of fourth toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of middle phalanx of finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of middle phalanx of ring finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of distal phalanx of hand (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of middle phalanx of fifth toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of middle phalanx of middle finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of distal phalanx of foot Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of middle phalanx of little finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of distal phalanx of middle finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of middle phalanx of index finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of distal phalanx of thumb (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of distal phalanx of index finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of distal phalanx of little finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of distal phalanx of ring finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of phalanx of foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of phalanx of hand (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of phalanx of great toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of phalanx of second toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of phalanx of third toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of phalanx of index finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of phalanx of fourth toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of phalanx of fifth toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of phalanx of thumb Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of phalanx of middle finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of phalanx of little finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of phalanx of ring finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of proximal phalanx of index finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of proximal phalanx of third toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of proximal phalanx of fourth toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of proximal phalanx of fifth toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of proximal phalanx of ring finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of proximal phalanx of middle finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of proximal phalanx of little finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of proximal phalanx of finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of proximal phalanx of foot Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of proximal phalanx of thumb (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of proximal phalanx of great toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal bullet shape of proximal phalanx of second toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal cone shape of epiphysis of phalanx of second toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal cone shape of epiphysis of phalanx of third toe Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal cone shape of epiphysis of phalanx of fourth toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal cone shape of epiphysis of middle phalanx of finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal cone shape of epiphysis of phalanx of hand (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal cone shape of epiphysis of proximal phalanx of hand Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal cone shape of epiphysis of metacarpal bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal cone shape of epiphysis of phalanx of finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal cone shape of epiphysis of phalanx of index finger Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal cone shape of epiphysis of phalanx of middle finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal cone shape of epiphysis of phalanx of fifth toe (disorder) Occurrence True Congenital Inferred relationship Some 1

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