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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Entire term case insensitive SNOMED CT core module
380599019 Congenita en Synonym Active Entire term case insensitive SNOMED CT core module
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

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

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