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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
Congenital combined form cataract of left eye Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital combined form cataract of right eye Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital atresia of inferior vena cava without azygos continuation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Isolated microspherophakia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Isolated microspherophakia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Phenylketonuria Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Phenylketonuria due to tetrahydrobiopterin deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Timothy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Timothy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Atypical Timothy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Atypical Timothy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Femur fibula ulna complex Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Femur fibula ulna complex Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Situs inversus of optic disc Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital corneal leukoma Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital laryngotracheoesophageal cleft Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital laryngotracheoesophageal cleft Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Laryngeal cleft type 0 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital cyst of nasolacrimal duct Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Exstrophy epispadias complex Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital deformity of upper limb Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Megaconial congenital muscular dystrophy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Megaconial congenital muscular dystrophy Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Megaconial congenital muscular dystrophy Occurrence True Congenital Inferred relationship Existential restriction modifier 3
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microphthalmia, microtia, fetal akinesia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microphthalmia, microtia, fetal akinesia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Microphthalmia, microtia, fetal akinesia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Microphthalmia, microtia, fetal akinesia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Microphthalmia, microtia, fetal akinesia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Congenital deformity of hand Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital anomaly of bilateral upper limbs Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital anomaly of bilateral upper limbs Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital anomaly of right upper limb Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital anomaly of left upper limb Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital deformity of shoulder Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital deformity of upper arm Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mannosephosphate isomerase congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital anomaly of second branchial cleft Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital anomaly of second branchial cleft Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital anomaly of third branchial cleft Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital anomaly of third branchial cleft Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital anomaly of fourth branchial cleft Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital anomaly of fourth branchial cleft Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital fistula of commissure of lips Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Non-syndromic metopic craniosynostosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Non-syndromic metopic craniosynostosis Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Isolated osteopoikilosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
46,XY disorder of sex development due to isolated 17,20-lyase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital isolated adrenocorticotropic hormone deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital isolated adrenocorticotropic hormone deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Autosomal dominant generalized dystrophic epidermolysis bullosa Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital anomaly of left lower limb Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital anomaly of right lower limb Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cardiac anomaly and heterotaxy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Deafness, enamel hypoplasia, nail defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Myosin heavy chain 9 non muscle related disease Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Congenital malformation of blood vessel of bilateral orbits proper Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Incomplete cleft lip Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Meningoencephalocele of orbit Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Meningoencephalocele of orbit Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Meningoencephalocele of orbit Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Meningoencephalocele of orbit Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Complete cleft lip Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital meningocele of orbit Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital meningocele of orbit Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Syndromic nanophthalmos due to Kenny-Caffey syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Isolated agenesis of cerebellar vermis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Rathke's pouch cyst Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Osteofibrous dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
14q32 duplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
14q32 duplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
46,XX ovotesticular disorder of sex development Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ovotesticular disorder of sex development Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital azygos continuation of inferior vena cava Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital straddling and overriding tricuspid valve Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital cochleovestibular malformation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital vascular malformation of orbital region Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Persistent congenital anteversion of femur Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Encephalopathy due to mitochondrial and peroxisomal fission defect Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Phosphodiesterase 4D haploinsufficiency syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Phosphodiesterase 4D haploinsufficiency syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum Occurrence True Congenital Inferred relationship Existential restriction modifier 1
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital pseudopapilledema Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital atrioventricular septal defect Occurrence True Congenital Inferred relationship Existential restriction modifier 1
FG syndrome type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
FG syndrome type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Dermatosparaxis Ehlers-Danlos syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1

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