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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
Dermatosparaxis Ehlers-Danlos syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Dermatosparaxis Ehlers-Danlos syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Dermatosparaxis Ehlers-Danlos syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Night blindness, skeletal anomalies, dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Night blindness, skeletal anomalies, dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital abnormal retraction of nipple Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Severe primary trimethylaminuria Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Symptomatic form of fragile X syndrome in female carrier Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Symptomatic form of fragile X syndrome in female carrier Occurrence True Congenital Inferred relationship Existential restriction modifier 2
46,XX ovarian dysgenesis, short stature syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Caroli syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Aprosencephaly/atelencephaly spectrum Occurrence True Congenital Inferred relationship Existential restriction modifier 1
XK aprosencephaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Aprosencephaly cerebellar dysgenesis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Aprosencephaly cerebellar dysgenesis Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Aprosencephaly cerebellar dysgenesis Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Aprosencephaly cerebellar dysgenesis Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Extensive peripapillary myelinated nerve fibers of retina Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Myelinated nerve fiber layer of retina Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Regressive spondylometaphyseal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
nudE neurodevelopment protein 1-related microhydranencephaly Occurrence True Congenital Inferred relationship Existential restriction modifier 1
nudE neurodevelopment protein 1-related microhydranencephaly Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Cerebellar-facial-dental syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cerebellar-facial-dental syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Cerebellar-facial-dental syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Cerebellar-facial-dental syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Short stature, developmental delay, congenital heart defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Osteosclerotic metaphyseal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Osteosclerotic metaphyseal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Symptomatic form of Coffin-Lowry syndrome in female carrier Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Fatty acyl-coenzyme A reductase 1 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Congenital insensitivity to pain with severe intellectual disability Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital insensitivity to pain with severe intellectual disability Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital insensitivity to pain with severe intellectual disability Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Congenital axonal neuropathy with encephalopathy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital axonal neuropathy with encephalopathy Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital axonal neuropathy with encephalopathy Occurrence True Congenital Inferred relationship Existential restriction modifier 3
NAD(P)HX dehydratase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
NAD(P)HX epimerase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 3
16p12.1p12.3 triplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
16p12.1p12.3 triplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
16p12.1p12.3 triplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
16p12.1p12.3 triplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
4q25 proximal deletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
4q25 proximal deletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
4q25 proximal deletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
4q25 proximal deletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Lamb Shaffer syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
12p12.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Developmental and speech delay due to SRY-box 5 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Spondylodysplastic Ehlers-Danlos syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Spondylodysplastic Ehlers-Danlos syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Spondylodysplastic Ehlers-Danlos syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Atrial septal defect within oval fossa Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital infiltrating lipomatosis of face Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital infiltrating lipomatosis of face Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Chronic diarrhea due to glucoamylase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Generalized inflammatory peeling skin syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Generalized non-inflammatory peeling skin syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital prepapillary vascular loop Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital prepapillary vascular loop Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Waardenburg syndrome type 3 Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Waardenburg syndrome type 3 Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Occurrence True Congenital Inferred relationship Existential restriction modifier 6
Waardenburg syndrome type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Waardenburg syndrome type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Waardenburg syndrome type 2 Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Myopathic Ehlers-Danlos syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Myopathic Ehlers-Danlos syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Myopathic Ehlers-Danlos syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Myopathic Ehlers-Danlos syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Classical-like Ehlers-Danlos syndrome type 2 Occurrence True Congenital Inferred relationship Existential restriction modifier 1

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