255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Fetal and/or neonatal period\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

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

Descriptions:

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
Microspherophakia with metaphyseal dysplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Microspherophakia with metaphyseal dysplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Carbohydrate deficient glycoprotein syndrome type 2a (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Embryofetopathy caused by methimazole (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
8q13 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
8q13 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
8q13 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Ligase 4 syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Keratin 14 related epidermolysis bullosa simplex (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Keratin 14 related epidermolysis bullosa simplex (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Kleefstra syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Keutel syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Keutel syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Keutel syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Keutel syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8
Palmoplantar keratoderma with clinodactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Palmoplantar keratoderma with clinodactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Palmoplantar keratoderma with clinodactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Congenital ichthyosis with hypotrichosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital ichthyosis with hypotrichosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Hypospadias, hypertelorism, coloboma, deafness syndrome	Occurrence	False	Congenital	Inferred relationship	Some	6
Hypospadias, hypertelorism, coloboma, deafness syndrome	Occurrence	False	Congenital	Inferred relationship	Some	7
Hypospadias, hypertelorism, coloboma, deafness syndrome	Occurrence	False	Congenital	Inferred relationship	Some	8
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	9
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	8
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	9
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	10
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	11
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Hypertelorism Teebi type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Hypertelorism Teebi type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary hyperekplexia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hepatic glycogen synthase deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Hepatic glycogen synthase deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Muscle and heart glycogen synthase deficiency (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Muscle and heart glycogen synthase deficiency (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Muscle and heart glycogen synthase deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	6
Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial scaphocephaly syndrome McGillivray type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Familial scaphocephaly syndrome McGillivray type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Autosomal dominant osteopetrosis type 2 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital coxa valga	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital coloboma of iris	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital coxa vara	Occurrence	False	Congenital	Inferred relationship	Some	2
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital trigger thumb of right hand	Occurrence	False	Congenital	Inferred relationship	Some	1
Congenital trigger thumb of left hand	Occurrence	False	Congenital	Inferred relationship	Some	1
Polysyndactyly and cardiac malformation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Polysyndactyly and cardiac malformation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	6
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Congenital disorder of glycosylation type 1e (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital disorder of glycosylation type 1j (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cryptomicrotia brachydactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Cryptomicrotia brachydactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Crisponi syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Crisponi syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Crisponi syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Craniomicromelic syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Craniomicromelic syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Craniomicromelic syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Craniometadiaphyseal dysplasia wormian bone type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Craniolenticulosutural dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Craniolenticulosutural dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Craniolenticulosutural dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Congenital short costocoracoid ligament (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Bowed tibia, radial anomaly, osteopenia, fracture syndrome	Occurrence	False	Congenital	Inferred relationship	Some	2
Cheirospondyloenchondromatosis	Occurrence	False	Congenital	Inferred relationship	Some	2
Combined immunodeficiency due to CD3gamma deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Major histocompatibility complex class I deficiency	Occurrence	False	Congenital	Inferred relationship	Some	1
Neutropenia, monocytopenia, deafness syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Sex chromosome aneuploidy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Temple Baraitser syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Temple Baraitser syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4

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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
710191000124118	At birth	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	US National Library of Medicine maintained module (core metadata concept)