FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.7  |  FHIR Version n/a  User: [n/a]

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
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Intellectual disability, expressive aphasia, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Component of oligomeric golgi complex 2-related congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Congenital complete absence of right lower limb Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital complete absence of left lower limb Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive central core disease Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant central core disease Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital deformity of soft tissue Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Melorheostosis of spine Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Melorheostosis of spine Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Melorheostosis of right foot Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Melorheostosis of right foot Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Melorheostosis of left foot Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Melorheostosis of left foot Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Melorheostosis of right lower leg Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Melorheostosis of right lower leg Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Melorheostosis of left lower leg Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Melorheostosis of left lower leg Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital fiber-type disproportion myopathy due to ZAK mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital fiber-type disproportion myopathy due to selenoprotein N mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital cystic dilatation of common bile duct Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Central basal perimembranous ventricular septal defect Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Macrodactyly of finger of left hand Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Macrodactyly of finger of right hand Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital shortening of left Achilles tendon Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital shortening of right Achilles tendon Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital palsy of trochlear nerve Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Lymphedema, posterior choanal atresia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Dysraphism, cleft lip and palate, limb reduction defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Dysraphism, cleft lip and palate, limb reduction defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Dysraphism, cleft lip and palate, limb reduction defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Dysraphism, cleft lip and palate, limb reduction defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Dysraphism, cleft lip and palate, limb reduction defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Severe oculo-renal-cerebellar syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Eye defects, arachnodactyly, cardiopathy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Eye defects, arachnodactyly, cardiopathy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Eye defects, arachnodactyly, cardiopathy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Eye defects, arachnodactyly, cardiopathy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Fryns Smeets Thiry syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital hydrocephalus, low insertion of umbilicus syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital hydrocephalus, low insertion of umbilicus syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital hydrocephalus, low insertion of umbilicus syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Microcephalic osteodysplastic primordial dwarfism type II Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microcephalic osteodysplastic primordial dwarfism type II Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Distal arthrogryposis type 10 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Multiple mitochondrial dysfunctions syndrome type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Multiple mitochondrial dysfunctions syndrome type 2 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Special AT-rich sequence-binding protein 2-associated syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Special AT-rich sequence-binding protein 2-associated syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Autosomal dominant deafness with onychodystrophy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant deafness with onychodystrophy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Autosomal dominant deafness with onychodystrophy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Autosomal dominant deafness with onychodystrophy syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 5
Congenital autosomal recessive small-platelet thrombocytopenia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Multiple mitochondrial dysfunctions syndrome type 3 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Multiple mitochondrial dysfunctions syndrome type 4 Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Congenital abnormal fusion of right carpal bones Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital dysplasia of bilateral upper limbs Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital dysplasia of bilateral upper limbs Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital dysplasia of right upper limb Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital abnormal fusion of bilateral carpal bones Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital abnormal fusion of bilateral carpal bones Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital dysplasia of left upper limb Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital abnormal fusion of left carpal bones Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Transmembrane protein 199 congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital kyphosis of cervicothoracic spine Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Polymicrogyria due to tubulin beta 2B class IIb mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital anomaly of craniovertebral junction Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Long QT syndrome type 9 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Long QT syndrome type 6 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Occurrence True Congenital Inferred relationship Existential restriction modifier 1

Start Previous Page 323 of 343 Next End

This concept is not in any reference sets

Back to Start