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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
Microcephalic osteodysplastic primordial dwarfism type II survenue (attribut) True congénital Inferred relationship Some 1
Microcephalic osteodysplastic primordial dwarfism type II survenue (attribut) True congénital Inferred relationship Some 2
Congenital fibre-type disproportion myopathy due to ACTA1 mutation survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation survenue (attribut) True congénital Inferred relationship Some 1
Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation survenue (attribut) True congénital Inferred relationship Some 1
Congenital fiber-type disproportion myopathy due to TPM3 mutation survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation survenue (attribut) True congénital Inferred relationship Some 1
Autosomal dominant congenital fiber-type disproportion myopathy due to TPM3 mutation survenue (attribut) True congénital Inferred relationship Some 1
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Distal arthrogryposis type 10 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Multiple mitochondrial dysfunctions syndrome type 1 survenue (attribut) True congénital Inferred relationship Some 1
Multiple mitochondrial dysfunctions syndrome type 2 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
SATB2-associated syndrome survenue (attribut) True congénital Inferred relationship Some 1
SATB2-associated syndrome survenue (attribut) True congénital Inferred relationship Some 2
Autosomal dominant deafness with onychodystrophy syndrome survenue (attribut) True congénital Inferred relationship Some 1
Autosomal dominant deafness with onychodystrophy syndrome survenue (attribut) True congénital Inferred relationship Some 2
Autosomal dominant deafness with onychodystrophy syndrome survenue (attribut) True congénital Inferred relationship Some 3
Autosomal dominant deafness with onychodystrophy syndrome survenue (attribut) True congénital Inferred relationship Some 5
Congenital autosomal recessive small-platelet thrombocytopenia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Multiple mitochondrial dysfunctions syndrome type 3 survenue (attribut) True congénital Inferred relationship Some 1
Multiple mitochondrial dysfunctions syndrome type 4 survenue (attribut) True congénital Inferred relationship Some 3
Congenital abnormal fusion of right carpal bones (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Bilateral congenital dysplasia of upper limbs survenue (attribut) True congénital Inferred relationship Some 1
Bilateral congenital dysplasia of upper limbs survenue (attribut) True congénital Inferred relationship Some 2
Congenital dysplasia of right upper limb (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Bilateral congenital abnormal fusion of carpal bones survenue (attribut) True congénital Inferred relationship Some 1
Bilateral congenital abnormal fusion of carpal bones survenue (attribut) True congénital Inferred relationship Some 2
Congenital dysplasia of left upper limb (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital abnormal fusion of left carpal bones (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome survenue (attribut) True congénital Inferred relationship Some 1
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Transmembrane protein 199 congenital disorder of glycosylation (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome survenue (attribut) True congénital Inferred relationship Some 1
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement survenue (attribut) True congénital Inferred relationship Some 2
Congenital kyphosis of cervicothoracic spine (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Polymicrogyria due to TUBB2B mutation survenue (attribut) True congénital Inferred relationship Some 1
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies survenue (attribut) True congénital Inferred relationship Some 1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies survenue (attribut) True congénital Inferred relationship Some 2
Congenital anomaly of craniovertebral junction (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Long QT syndrome type 9 survenue (attribut) True congénital Inferred relationship Some 1
Long QT syndrome type 6 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies survenue (attribut) True congénital Inferred relationship Some 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies survenue (attribut) True congénital Inferred relationship Some 2
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies survenue (attribut) True congénital Inferred relationship Some 3
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies survenue (attribut) True congénital Inferred relationship Some 4
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies survenue (attribut) True congénital Inferred relationship Some 5
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies survenue (attribut) True congénital Inferred relationship Some 6
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome survenue (attribut) True congénital Inferred relationship Some 1
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome survenue (attribut) True congénital Inferred relationship Some 1
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome survenue (attribut) True congénital Inferred relationship Some 2
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome survenue (attribut) True congénital Inferred relationship Some 3
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome survenue (attribut) True congénital Inferred relationship Some 4
Congenital kyphosis of cervicothoracic spine (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Adult neuronal ceroid lipofuscinosis survenue (attribut) True congénital Inferred relationship Some 2
Dysmorphic sialidosis with renal involvement survenue (attribut) True congénital Inferred relationship Some 2
Adult chronic GM2 gangliosidosis (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Juvenile GM2 gangliosidosis (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Dysmorphic sialidosis, juvenile form survenue (attribut) True congénital Inferred relationship Some 2
Total hexosaminidase deficiency - juvenile survenue (attribut) True congénital Inferred relationship Some 1
Total hexosaminidase deficiency - adult survenue (attribut) True congénital Inferred relationship Some 2
B variant hexosaminidase A deficiency - juvenile survenue (attribut) True congénital Inferred relationship Some 2
Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Progeroid features, hepatocellular carcinoma predisposition syndrome survenue (attribut) True congénital Inferred relationship Some 1
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Cerebral ventriculomegaly, cystic kidney disease survenue (attribut) True congénital Inferred relationship Some 1
Cerebral ventriculomegaly, cystic kidney disease survenue (attribut) True congénital Inferred relationship Some 2
Mandibulofacial dysostosis with alopecia survenue (attribut) True congénital Inferred relationship Some 1
Incomplete achromatopsia survenue (attribut) True congénital Inferred relationship Some 1
Bilateral congenital elevation of scapulae survenue (attribut) True congénital Inferred relationship Some 1
Congenital absence of left lower leg and foot survenue (attribut) True congénital Inferred relationship Some 1
Congenital absence of left lower leg and foot survenue (attribut) True congénital Inferred relationship Some 2
Congenital absence of right lower leg and foot (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital absence of right lower leg and foot (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Male pseudohermaphroditism due to congenital adrenal hyperplasia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Female pseudohermaphroditism due to congenital adrenal hyperplasia survenue (attribut) True congénital Inferred relationship Some 1
Pseudohermaphroditism due to congenital adrenal hyperplasia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Bilateral congenital elevation of scapulae survenue (attribut) True congénital Inferred relationship Some 2
Congenital oculomotor nerve palsy (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hyperostosis cranialis interna (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hyperostosis cranialis interna (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Mitochondrial pyruvate carrier deficiency survenue (attribut) True congénital Inferred relationship Some 1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome survenue (attribut) True congénital Inferred relationship Some 1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome survenue (attribut) True congénital Inferred relationship Some 2
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome survenue (attribut) True congénital Inferred relationship Some 3
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome survenue (attribut) True congénital Inferred relationship Some 4
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome survenue (attribut) True congénital Inferred relationship Some 1
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome survenue (attribut) True congénital Inferred relationship Some 2

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