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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
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Occurrence True Congenital Inferred relationship Some 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Occurrence True Congenital Inferred relationship Some 2
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Occurrence True Congenital Inferred relationship Some 3
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Occurrence True Congenital Inferred relationship Some 4
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Occurrence True Congenital Inferred relationship Some 5
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Occurrence True Congenital Inferred relationship Some 6
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome Occurrence True Congenital Inferred relationship Some 1
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Occurrence True Congenital Inferred relationship Some 1
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Occurrence True Congenital Inferred relationship Some 2
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Occurrence True Congenital Inferred relationship Some 3
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Occurrence True Congenital Inferred relationship Some 4
Congenital kyphosis of cervicothoracic spine (disorder) Occurrence True Congenital Inferred relationship Some 2
Adult neuronal ceroid lipofuscinosis Occurrence True Congenital Inferred relationship Some 2
Dysmorphic sialidosis with renal involvement Occurrence True Congenital Inferred relationship Some 2
Adult chronic GM2 gangliosidosis (disorder) Occurrence True Congenital Inferred relationship Some 2
Juvenile GM2 gangliosidosis (disorder) Occurrence True Congenital Inferred relationship Some 2
Dysmorphic sialidosis, juvenile form Occurrence True Congenital Inferred relationship Some 2
Total hexosaminidase deficiency - juvenile Occurrence True Congenital Inferred relationship Some 1
Total hexosaminidase deficiency - adult Occurrence True Congenital Inferred relationship Some 2
B variant hexosaminidase A deficiency - juvenile Occurrence True Congenital Inferred relationship Some 2
Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder) Occurrence True Congenital Inferred relationship Some 1
Progeroid features, hepatocellular carcinoma predisposition syndrome Occurrence True Congenital Inferred relationship Some 1
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Cerebral ventriculomegaly, cystic kidney disease Occurrence True Congenital Inferred relationship Some 1
Cerebral ventriculomegaly, cystic kidney disease Occurrence True Congenital Inferred relationship Some 2
Mandibulofacial dysostosis with alopecia Occurrence True Congenital Inferred relationship Some 1
Incomplete achromatopsia Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital elevation of scapulae Occurrence True Congenital Inferred relationship Some 1
Congenital absence of left lower leg and foot Occurrence True Congenital Inferred relationship Some 1
Congenital absence of left lower leg and foot Occurrence True Congenital Inferred relationship Some 2
Congenital absence of right lower leg and foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence of right lower leg and foot (disorder) Occurrence True Congenital Inferred relationship Some 2
Male pseudohermaphroditism due to congenital adrenal hyperplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Female pseudohermaphroditism due to congenital adrenal hyperplasia Occurrence True Congenital Inferred relationship Some 1
Pseudohermaphroditism due to congenital adrenal hyperplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital elevation of scapulae Occurrence True Congenital Inferred relationship Some 2
Congenital oculomotor nerve palsy (disorder) Occurrence True Congenital Inferred relationship Some 1
Hyperostosis cranialis interna (disorder) Occurrence True Congenital Inferred relationship Some 1
Hyperostosis cranialis interna (disorder) Occurrence True Congenital Inferred relationship Some 2
Mitochondrial pyruvate carrier deficiency Occurrence True Congenital Inferred relationship Some 1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 2
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 3
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 4
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 2
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 3
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Female adrenal virilization Occurrence True Congenital Inferred relationship Some 1
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Severe myopia, generalized joint laxity, short stature syndrome Occurrence True Congenital Inferred relationship Some 1
Severe myopia, generalized joint laxity, short stature syndrome Occurrence True Congenital Inferred relationship Some 2
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Occurrence True Congenital Inferred relationship Some 2
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Vertical retraction syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital fibrosis of inferior rectus muscle (disorder) Occurrence True Congenital Inferred relationship Some 2
Ehlers-Danlos syndrome, hydroxylysine-deficient Occurrence True Congenital Inferred relationship Some 5
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Occurrence True Congenital Inferred relationship Some 7
Ehlers-Danlos syndrome kyphoscoliotic type (disorder) Occurrence True Congenital Inferred relationship Some 5
Congenital horizontal gaze palsy (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital membrane of lacrimal punctum (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of bony orbit Occurrence True Congenital Inferred relationship Some 1
Congenital expansion of orbit Occurrence True Congenital Inferred relationship Some 1
Congenital corneal leucoma Occurrence True Congenital Inferred relationship Some 1
Isolated congenital horizontal gaze paresis Occurrence True Congenital Inferred relationship Some 1
Congenital horizontal gaze palsy (disorder) Occurrence True Congenital Inferred relationship Some 2
Ocular motor apraxia Cogan type (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital colobomatous cyst of orbit (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital colobomatous cyst of orbit (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital periodic alternating nystagmus Occurrence True Congenital Inferred relationship Some 1
Congenital monocular elevator palsy (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital combined bony and soft tissue deformity of orbit (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital combined bony and soft tissue deformity of orbit (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital complete absence of nasolacrimal drainage system (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital contraction of orbit Occurrence True Congenital Inferred relationship Some 1
Congenital anophthalmos with orbital implant Occurrence True Congenital Inferred relationship Some 1
QRICH1-related intellectual disability, chondrodysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
QRICH1-related intellectual disability, chondrodysplasia syndrome Occurrence True Congenital Inferred relationship Some 2
Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) Occurrence True Congenital Inferred relationship Some 1
Keppen Lubinsky syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Pierpont syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 3
Congenital anomaly of retina of left eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of right retina Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of left lacrimal drainage system (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of right lacrimal drainage system (disorder) Occurrence True Congenital Inferred relationship Some 1

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