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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
Congenital combined form cataract of left eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital combined form cataract of right eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital atresia of inferior vena cava without azygos continuation (disorder) Occurrence True Congenital Inferred relationship Some 1
Isolated microspherophakia (disorder) Occurrence True Congenital Inferred relationship Some 1
Isolated microspherophakia (disorder) Occurrence True Congenital Inferred relationship Some 2
Phenylketonuria Occurrence True Congenital Inferred relationship Some 1
Phenylketonuria due to tetrahydrobiopterin deficiency Occurrence False Congenital Inferred relationship Some 2
Timothy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Timothy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Atypical Timothy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Atypical Timothy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Femur fibula ulna complex Occurrence True Congenital Inferred relationship Some 1
Femur fibula ulna complex Occurrence True Congenital Inferred relationship Some 3
Situs inversus of optic disc Occurrence True Congenital Inferred relationship Some 1
Congenital corneal leucoma Occurrence True Congenital Inferred relationship Some 2
Congenital laryngotracheoesophageal cleft Occurrence True Congenital Inferred relationship Some 1
Congenital laryngotracheoesophageal cleft Occurrence True Congenital Inferred relationship Some 2
Laryngeal cleft type 0 Occurrence True Congenital Inferred relationship Some 2
Congenital cyst of nasolacrimal duct (disorder) Occurrence True Congenital Inferred relationship Some 1
Exstrophy epispadias complex Occurrence True Congenital Inferred relationship Some 1
Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of upper limb Occurrence True Congenital Inferred relationship Some 1
Megaconial congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Megaconial congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 2
Megaconial congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 3
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Occurrence True Congenital Inferred relationship Some 1
Microphthalmia, microtia, fetal akinesia syndrome Occurrence True Congenital Inferred relationship Some 1
Microphthalmia, microtia, fetal akinesia syndrome Occurrence True Congenital Inferred relationship Some 2
Microphthalmia, microtia, fetal akinesia syndrome Occurrence True Congenital Inferred relationship Some 3
Microphthalmia, microtia, fetal akinesia syndrome Occurrence True Congenital Inferred relationship Some 4
Microphthalmia, microtia, fetal akinesia syndrome Occurrence True Congenital Inferred relationship Some 5
Congenital deformity of hand (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital anomaly of upper limbs Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital anomaly of upper limbs Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of right upper limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of left upper limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of shoulder (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of upper arm Occurrence True Congenital Inferred relationship Some 1
Mannosephosphate isomerase congenital disorder of glycosylation (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of second branchial cleft Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of second branchial cleft Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of third branchial cleft Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of third branchial cleft Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of fourth branchial cleft Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of fourth branchial cleft Occurrence True Congenital Inferred relationship Some 2
Congenital fistula of commissure of lips Occurrence True Congenital Inferred relationship Some 1
Non-syndromic metopic craniosynostosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Non-syndromic metopic craniosynostosis (disorder) Occurrence True Congenital Inferred relationship Some 2
Isolated osteopoikilosis (disorder) Occurrence True Congenital Inferred relationship Some 1
46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital isolated adrenocorticotropic hormone deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital isolated adrenocorticotropic hormone deficiency (disorder) Occurrence True Congenital Inferred relationship Some 2
Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of left lower limb Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of right lower limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Cardiac anomaly and heterotaxy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) Occurrence True Congenital Inferred relationship Some 1
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
MYH9 related disease Occurrence True Congenital Inferred relationship Some 3
Congenital malformation of blood vessel of bilateral orbits proper (disorder) Occurrence True Congenital Inferred relationship Some 2
Incomplete cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 1
Meningoencephalocele of orbit (disorder) Occurrence True Congenital Inferred relationship Some 1
Meningoencephalocele of orbit (disorder) Occurrence True Congenital Inferred relationship Some 2
Meningoencephalocele of orbit (disorder) Occurrence True Congenital Inferred relationship Some 3
Meningoencephalocele of orbit (disorder) Occurrence True Congenital Inferred relationship Some 4
Complete cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital meningocele of orbit (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital meningocele of orbit (disorder) Occurrence True Congenital Inferred relationship Some 2
Syndromic nanophthalmos due to Kenny-Caffey syndrome Occurrence True Congenital Inferred relationship Some 1
Isolated agenesis of cerebellar vermis (disorder) Occurrence True Congenital Inferred relationship Some 1
Rathke's pouch cyst Occurrence True Congenital Inferred relationship Some 1
Limb girdle muscular dystrophy due to POMK deficiency Occurrence True Congenital Inferred relationship Some 2
Osteofibrous dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 2
14q32 duplication syndrome Occurrence True Congenital Inferred relationship Some 1
14q32 duplication syndrome Occurrence True Congenital Inferred relationship Some 2
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
46,XX ovotesticular disorder of sex development (disorder) Occurrence True Congenital Inferred relationship Some 1
Ovotesticular disorder of sex development Occurrence True Congenital Inferred relationship Some 1
Congenital azygos continuation of inferior vena cava (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital straddling and overriding tricuspid valve (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital cochleovestibular malformation Occurrence True Congenital Inferred relationship Some 1
Congenital vascular malformation of orbital region (disorder) Occurrence True Congenital Inferred relationship Some 1
Persistent congenital anteversion of femur (disorder) Occurrence True Congenital Inferred relationship Some 1
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) Occurrence True Congenital Inferred relationship Some 1
PDE4D haploinsufficiency syndrome Occurrence True Congenital Inferred relationship Some 1
PDE4D haploinsufficiency syndrome Occurrence True Congenital Inferred relationship Some 2
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Occurrence True Congenital Inferred relationship Some 1
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital pseudopapilledema (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
FG syndrome type 1 (disorder) Occurrence True Congenital Inferred relationship Some 1
FG syndrome type 1 (disorder) Occurrence True Congenital Inferred relationship Some 2
Dermatosparaxis Ehlers-Danlos syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1

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