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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
Dermatosparaxis Ehlers-Danlos syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Dermatosparaxis Ehlers-Danlos syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Dermatosparaxis Ehlers-Danlos syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Night blindness, skeletal anomalies, dysmorphism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Night blindness, skeletal anomalies, dysmorphism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital abnormal retraction of nipple (disorder) Occurrence True Congenital Inferred relationship Some 1
Severe primary trimethylaminuria (disorder) Occurrence True Congenital Inferred relationship Some 1
Symptomatic form of fragile X syndrome in female carrier (disorder) Occurrence True Congenital Inferred relationship Some 1
Symptomatic form of fragile X syndrome in female carrier (disorder) Occurrence True Congenital Inferred relationship Some 2
46,XX ovarian dysgenesis, short stature syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Caroli syndrome Occurrence True Congenital Inferred relationship Some 1
Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Aprosencephaly/atelencephaly spectrum Occurrence True Congenital Inferred relationship Some 1
XK aprosencephaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Aprosencephaly cerebellar dysgenesis Occurrence True Congenital Inferred relationship Some 1
Aprosencephaly cerebellar dysgenesis Occurrence True Congenital Inferred relationship Some 2
Aprosencephaly cerebellar dysgenesis Occurrence True Congenital Inferred relationship Some 3
Aprosencephaly cerebellar dysgenesis Occurrence True Congenital Inferred relationship Some 4
Extensive peripapillary myelinated nerve fibres of retina Occurrence True Congenital Inferred relationship Some 1
Myelinated nerve fiber layer of retina Occurrence True Congenital Inferred relationship Some 1
Regressive spondylometaphyseal dysplasia Occurrence True Congenital Inferred relationship Some 1
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder) Occurrence True Congenital Inferred relationship Some 1
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Occurrence True Congenital Inferred relationship Some 1
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Occurrence True Congenital Inferred relationship Some 1
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Occurrence True Congenital Inferred relationship Some 2
PYCR2-related microcephaly, progressive leucoencephalopathy Occurrence True Congenital Inferred relationship Some 1
NDE1-related microhydranencephaly Occurrence True Congenital Inferred relationship Some 1
NDE1-related microhydranencephaly Occurrence True Congenital Inferred relationship Some 2
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Occurrence True Congenital Inferred relationship Some 2
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Occurrence True Congenital Inferred relationship Some 3
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Occurrence True Congenital Inferred relationship Some 4
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Occurrence True Congenital Inferred relationship Some 5
Cerebellar-facial-dental syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Cerebellar-facial-dental syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Cerebellar-facial-dental syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Cerebellar-facial-dental syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Short stature, developmental delay, congenital heart defect syndrome Occurrence True Congenital Inferred relationship Some 1
Osteosclerotic metaphyseal dysplasia Occurrence True Congenital Inferred relationship Some 1
Osteosclerotic metaphyseal dysplasia Occurrence True Congenital Inferred relationship Some 3
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome Occurrence True Congenital Inferred relationship Some 2
Symptomatic form of Coffin-Lowry syndrome in female carrier (disorder) Occurrence True Congenital Inferred relationship Some 1
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) Occurrence True Congenital Inferred relationship Some 5
Congenital insensitivity to pain with severe intellectual disability (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital insensitivity to pain with severe intellectual disability (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital insensitivity to pain with severe intellectual disability (disorder) Occurrence True Congenital Inferred relationship Some 3
Congenital axonal neuropathy with encephalopathy Occurrence True Congenital Inferred relationship Some 1
Congenital axonal neuropathy with encephalopathy Occurrence True Congenital Inferred relationship Some 2
Congenital axonal neuropathy with encephalopathy Occurrence True Congenital Inferred relationship Some 3
NAD(P)HX dehydratase deficiency (disorder) Occurrence True Congenital Inferred relationship Some 2
NAD(P)HX epimerase deficiency (disorder) Occurrence True Congenital Inferred relationship Some 3
16p12.1p12.3 triplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
16p12.1p12.3 triplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
16p12.1p12.3 triplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
16p12.1p12.3 triplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
4q25 proximal deletion syndrome Occurrence True Congenital Inferred relationship Some 1
4q25 proximal deletion syndrome Occurrence True Congenital Inferred relationship Some 2
4q25 proximal deletion syndrome Occurrence True Congenital Inferred relationship Some 3
4q25 proximal deletion syndrome Occurrence True Congenital Inferred relationship Some 4
Lamb Shaffer syndrome Occurrence True Congenital Inferred relationship Some 1
12p12.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 3
Developmental and speech delay due to SRY-box 5 deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Spondylodysplastic Ehlers-Danlos syndrome Occurrence True Congenital Inferred relationship Some 1
Spondylodysplastic Ehlers-Danlos syndrome Occurrence True Congenital Inferred relationship Some 2
Spondylodysplastic Ehlers-Danlos syndrome Occurrence True Congenital Inferred relationship Some 3
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Ostium secundum type atrial septal defect Occurrence True Congenital Inferred relationship Some 1
Congenital infiltrating lipomatosis of face (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital infiltrating lipomatosis of face (disorder) Occurrence True Congenital Inferred relationship Some 2
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Occurrence True Congenital Inferred relationship Some 2
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Occurrence True Congenital Inferred relationship Some 3
Chronic diarrhea due to glucoamylase deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Generalized inflammatory peeling skin syndrome Occurrence True Congenital Inferred relationship Some 1
Generalized non-inflammatory peeling skin syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital prepapillary vascular loop Occurrence True Congenital Inferred relationship Some 1
Congenital prepapillary vascular loop Occurrence True Congenital Inferred relationship Some 2
Waardenburg syndrome type 3 (disorder) Occurrence True Congenital Inferred relationship Some 3
Waardenburg syndrome type 3 (disorder) Occurrence True Congenital Inferred relationship Some 5
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Occurrence True Congenital Inferred relationship Some 6
Waardenburg syndrome type 1 (disorder) Occurrence True Congenital Inferred relationship Some 4
Waardenburg syndrome type 1 (disorder) Occurrence True Congenital Inferred relationship Some 5
Waardenburg syndrome type 2 (disorder) Occurrence True Congenital Inferred relationship Some 4
Myopathic Ehlers-Danlos syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Myopathic Ehlers-Danlos syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Myopathic Ehlers-Danlos syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Myopathic Ehlers-Danlos syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Classical-like Ehlers-Danlos syndrome type 2 Occurrence True Congenital Inferred relationship Some 1

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