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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
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
554801000077113 congénital (valeur de l'attribut) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
congénital est un(e) (attribut) périodes de vie true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome survenue (attribut) True congénital Inferred relationship Some 2
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome survenue (attribut) True congénital Inferred relationship Some 3
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Female adrenal virilization survenue (attribut) True congénital Inferred relationship Some 1
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Severe myopia, generalized joint laxity, short stature syndrome survenue (attribut) True congénital Inferred relationship Some 1
Severe myopia, generalized joint laxity, short stature syndrome survenue (attribut) True congénital Inferred relationship Some 2
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome survenue (attribut) True congénital Inferred relationship Some 2
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Vertical retraction syndrome survenue (attribut) True congénital Inferred relationship Some 2
Congenital fibrosis of inferior rectus muscle (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Ehlers-Danlos syndrome, hydroxylysine-deficient survenue (attribut) True congénital Inferred relationship Some 5
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) survenue (attribut) True congénital Inferred relationship Some 7
Ehlers-Danlos syndrome kyphoscoliotic type (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Congenital horizontal gaze palsy (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital membrane of lacrimal punctum (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital distortion of orbit (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital expansion of orbit survenue (attribut) True congénital Inferred relationship Some 1
Congenital corneal leucoma survenue (attribut) True congénital Inferred relationship Some 1
Isolated congenital horizontal gaze paresis survenue (attribut) True congénital Inferred relationship Some 1
Congenital horizontal gaze palsy (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Ocular motor apraxia Cogan type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital colobomatous cyst of orbit (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital colobomatous cyst of orbit (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital periodic alternating nystagmus survenue (attribut) True congénital Inferred relationship Some 1
Congenital monocular elevator palsy (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital combined bony and soft tissue deformity of orbit (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital combined bony and soft tissue deformity of orbit (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital complete absence of nasolacrimal drainage system (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital contraction of orbit survenue (attribut) True congénital Inferred relationship Some 1
Congenital anophthalmos with orbital implant survenue (attribut) True congénital Inferred relationship Some 1
QRICH1-related intellectual disability, chondrodysplasia syndrome survenue (attribut) True congénital Inferred relationship Some 1
QRICH1-related intellectual disability, chondrodysplasia syndrome survenue (attribut) True congénital Inferred relationship Some 2
Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Keppen Lubinsky syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Pierpont syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome survenue (attribut) True congénital Inferred relationship Some 3
Congenital anomaly of retina of left eye (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital anomaly of right retina survenue (attribut) True congénital Inferred relationship Some 1
Congenital abnormality of left lacrimal drainage system (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital abnormality of right lacrimal drainage system (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital abnormality of bilateral lacrimal drainage systems (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital abnormality of bilateral lacrimal drainage systems (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital vascular malformation of left orbit proper survenue (attribut) True congénital Inferred relationship Some 1
Congenital malformation of blood vessel of right orbit proper (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital malformation of blood vessel of bilateral orbits proper (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Paraspadias survenue (attribut) True congénital Inferred relationship Some 2
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome survenue (attribut) True congénital Inferred relationship Some 2
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Pancreatic agenesis, holoprosencephaly syndrome survenue (attribut) True congénital Inferred relationship Some 1
Pancreatic agenesis, holoprosencephaly syndrome survenue (attribut) True congénital Inferred relationship Some 2
Early-onset calcifying leucoencephalopathy, skeletal dysplasia survenue (attribut) True congénital Inferred relationship Some 2
Neonatal epileptic encephalopathy due to glutaminase deficiency survenue (attribut) True congénital Inferred relationship Some 3
Congenital primary lymphedema of Gordon (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Primary desmosis coli (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Syndromic congenital sodium diarrhoea survenue (attribut) True congénital Inferred relationship Some 1
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
1p35.2 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 1
1p35.2 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 2
1p35.2 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 3
Polyglucosan body myopathy type 2 survenue (attribut) True congénital Inferred relationship Some 1
Complex lethal osteochondrodysplasia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Mixed cystic lymphatic malformation survenue (attribut) True congénital Inferred relationship Some 1
Spondyloepiphyseal dysplasia Stanescu type survenue (attribut) True congénital Inferred relationship Some 2
Kaposiform lymphangiomatosis (disorder) survenue (attribut) True congénital Inferred relationship Some 1
PCNA-related progressive neurodegenerative photosensitivity syndrome survenue (attribut) True congénital Inferred relationship Some 1
PCNA-related progressive neurodegenerative photosensitivity syndrome survenue (attribut) True congénital Inferred relationship Some 4
Glucagon receptor-related hyperglucagonemia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
9q33.3q34.11 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 1
9q33.3q34.11 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 2
9q33.3q34.11 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 3
16p13.2 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
16p13.2 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Xq25 microduplication syndrome survenue (attribut) True congénital Inferred relationship Some 1
Xq25 microduplication syndrome survenue (attribut) True congénital Inferred relationship Some 2
Xq25 microduplication syndrome survenue (attribut) True congénital Inferred relationship Some 3
17q24.2 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
17q24.2 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
17q24.2 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
9q21.13 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 1
9q21.13 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 3
9q21.13 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 4

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