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255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
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 Occurrence False Congenital Inferred relationship Some 5
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome Occurrence False Congenital Inferred relationship Some 6
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome Occurrence False Congenital Inferred relationship Some 7
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome Occurrence False Congenital Inferred relationship Some 8
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome Occurrence False Congenital Inferred relationship Some 9
Acute neuronopathic Gaucher's disease Occurrence False Congenital Inferred relationship Some 2
Hypoparathyroidism, deafness, renal disease syndrome Occurrence True Congenital Inferred relationship Some 8
Hypoparathyroidism, deafness, renal disease syndrome Occurrence True Congenital Inferred relationship Some 9
Hypoparathyroidism, deafness, renal disease syndrome Occurrence True Congenital Inferred relationship Some 10
Hypoparathyroidism, deafness, renal disease syndrome Occurrence True Congenital Inferred relationship Some 11
Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum Occurrence False Congenital Inferred relationship Some 5
Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum Occurrence False Congenital Inferred relationship Some 7
Hypertelorism Teebi type Occurrence False Congenital Inferred relationship Some 3
Hypertelorism Teebi type Occurrence False Congenital Inferred relationship Some 4
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Occurrence True Congenital Inferred relationship Some 1
Hereditary hyperekplexia Occurrence True Congenital Inferred relationship Some 1
Hereditary combined deficiency of vitamin K-dependent clotting factors Occurrence True Congenital Inferred relationship Some 1
Glycogen storage disease due to hepatic glycogen synthase deficiency Occurrence True Congenital Inferred relationship Some 2
Glycogen storage disease due to hepatic glycogen synthase deficiency Occurrence True Congenital Inferred relationship Some 3
Glycogen storage disease due to muscle and heart glycogen synthase deficiency Occurrence False Congenital Inferred relationship Some 4
Glycogen storage disease due to muscle and heart glycogen synthase deficiency Occurrence False Congenital Inferred relationship Some 5
Glycogen storage disease due to muscle and heart glycogen synthase deficiency Occurrence True Congenital Inferred relationship Some 6
MOGS CDG - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
Familial scaphocephaly syndrome McGillivray type Occurrence True Congenital Inferred relationship Some 2
Familial scaphocephaly syndrome McGillivray type Occurrence False Congenital Inferred relationship Some 3
Autosomal dominant osteopetrosis type 2 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 Occurrence False Congenital Inferred relationship Some 4
Junctional epidermolysis bullosa non-Herlitz type Occurrence False Congenital Inferred relationship Some 4
Hereditary hypotrichosis with recurrent skin vesicles syndrome Occurrence False Congenital Inferred relationship Some 3
Congenital absence of sternum Occurrence False Congenital Inferred relationship Some
Periodic hyperlysinaemia Occurrence False Congenital Inferred relationship Some
Periodic hyperlysinaemia with hyperammonaemia Occurrence False Congenital Inferred relationship Some
Mesio-occlusion of teeth Occurrence False Congenital Inferred relationship Some
Supernumerary roots Occurrence False Congenital Inferred relationship Some
Congenital trigger thumb of right hand Occurrence True Congenital Inferred relationship Some 1
Congenital trigger thumb of left hand Occurrence True Congenital Inferred relationship Some 1
Polysyndactyly and cardiac malformation syndrome Occurrence True Congenital Inferred relationship Some 2
Polysyndactyly and cardiac malformation syndrome Occurrence True Congenital Inferred relationship Some 3
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome Occurrence False Congenital Inferred relationship Some 4
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome Occurrence False Congenital Inferred relationship Some 5
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 6
Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum Occurrence False Congenital Inferred relationship Some 4
Congenital disorder of glycosylation type 1e Occurrence True Congenital Inferred relationship Some 1
DPAGT1-CDG - dolichyl-phosphate n-acetylglucosamine phosphotransferase congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
Cryptomicrotia, brachydactyly, excess fingertip arch syndrome Occurrence True Congenital Inferred relationship Some 2
Cryptomicrotia, brachydactyly, excess fingertip arch syndrome Occurrence False Congenital Inferred relationship Some 3
Crisponi syndrome Occurrence True Congenital Inferred relationship Some 5
Crisponi syndrome Occurrence False Congenital Inferred relationship Some 6
Crisponi syndrome Occurrence False Congenital Inferred relationship Some 7
Craniomicromelic syndrome Occurrence False Congenital Inferred relationship Some 4
Craniomicromelic syndrome Occurrence False Congenital Inferred relationship Some 5
Craniomicromelic syndrome Occurrence False Congenital Inferred relationship Some 6
Craniometadiaphyseal dysplasia wormian bone type Occurrence False Congenital Inferred relationship Some 3
Craniolenticulosutural dysplasia Occurrence False Congenital Inferred relationship Some 4
Craniolenticulosutural dysplasia Occurrence False Congenital Inferred relationship Some 5
Craniolenticulosutural dysplasia Occurrence False Congenital Inferred relationship Some 6
Congenital short costocoracoid ligament Occurrence True Congenital Inferred relationship Some 1
Bowed tibia, radial anomaly, osteopenia, fracture syndrome Occurrence False Congenital Inferred relationship Some 2
Cheirospondyloenchondromatosis Occurrence True Congenital Inferred relationship Some 2
Combined immunodeficiency due to CD3-gamma deficiency Occurrence True Congenital Inferred relationship Some 1
Immunodeficiency by defective expression of HLA class 1 Occurrence True Congenital Inferred relationship Some 1
Neutropenia, monocytopenia, deafness syndrome Occurrence False Congenital Inferred relationship Some 3
Persistent fetal uterus Occurrence False Congenital Inferred relationship Some
Congenital articular rigidity with myopathy Occurrence False Congenital Inferred relationship Some
Congenital eventration of left crus of diaphragm Occurrence False Congenital Inferred relationship Some
Crowding of teeth Occurrence False Congenital Inferred relationship Some
Sex chromosome aneuploidy Occurrence True Congenital Inferred relationship Some 1
Reticular dysgenesis with congenital aleucocytosis Occurrence False Congenital Inferred relationship Some 2
Congenital anomaly of scapula Occurrence False Congenital Inferred relationship Some
Congenital anomaly of humerus Occurrence False Congenital Inferred relationship Some
Congenital anomaly of radius Occurrence False Congenital Inferred relationship Some
Congenital anomaly of ulna Occurrence False Congenital Inferred relationship Some
Congenital anomaly of femur Occurrence False Congenital Inferred relationship Some
Congenital anomaly of fibula Occurrence False Congenital Inferred relationship Some
Congenital anomaly of tibia Occurrence False Congenital Inferred relationship Some
Congenital anomaly of calcaneus Occurrence False Congenital Inferred relationship Some
Congenital anomaly of tarsal bone Occurrence False Congenital Inferred relationship Some
Congenital anomaly of metatarsal bone Occurrence False Congenital Inferred relationship Some
PELVIS syndrome Occurrence True Congenital Inferred relationship Some 2
PELVIS syndrome Occurrence False Congenital Inferred relationship Some 3
Temple Baraitser syndrome Occurrence True Congenital Inferred relationship Some 3
Temple Baraitser syndrome Occurrence False Congenital Inferred relationship Some 4
Temple Baraitser syndrome Occurrence False Congenital Inferred relationship Some 5
Atelosteogenesis type 1 Occurrence False Congenital Inferred relationship Some 2
Atelosteogenesis type 3 Occurrence False Congenital Inferred relationship Some 2
Atrial septal defect, atrioventricular conduction defect syndrome Occurrence False Congenital Inferred relationship Some 2
Atrial septal defect, atrioventricular conduction defect syndrome Occurrence False Congenital Inferred relationship Some 3
Auricular abnormality, cleft lip, ocular abnormality syndrome Occurrence False Congenital Inferred relationship Some 3
Auricular abnormality, cleft lip, ocular abnormality syndrome Occurrence False Congenital Inferred relationship Some 4
Auricular abnormality, cleft lip, ocular abnormality syndrome Occurrence False Congenital Inferred relationship Some 5
Congenital anomaly of carpal bone Occurrence False Congenital Inferred relationship Some
Omodysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of metacarpal bone Occurrence False Congenital Inferred relationship Some
Autosomal dominant omodysplasia Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive omodysplasia Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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