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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
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome Occurrence True Congenital Inferred relationship Some 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome Occurrence False Congenital Inferred relationship Some 7
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome Occurrence False Congenital Inferred relationship Some 9
Sialidosis type 1 Occurrence True Congenital Inferred relationship Some 1
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Occurrence False Congenital Inferred relationship Some 4
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Occurrence False Congenital Inferred relationship Some 5
Severe generalised recessive dystrophic epidermolysis bullosa Occurrence False Congenital Inferred relationship Some 4
SERKAL syndrome Occurrence True Congenital Inferred relationship Some 4
SERKAL syndrome Occurrence False Congenital Inferred relationship Some 5
SERKAL syndrome Occurrence False Congenital Inferred relationship Some 6
SERKAL syndrome Occurrence False Congenital Inferred relationship Some 7
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome Occurrence False Congenital Inferred relationship Some 6
Transient bullous dermolysis of newborn Occurrence False Congenital Inferred relationship Some 5
Congenital pes cavus of bilateral feet Occurrence False Congenital Inferred relationship Some 4
Congenital pes cavus of bilateral feet Occurrence False Congenital Inferred relationship Some 5
Congenital pes cavus of bilateral feet Occurrence False Congenital Inferred relationship Some 6
Congenital pes cavus of left foot Occurrence False Congenital Inferred relationship Some 3
Congenital pes cavus of left foot Occurrence False Congenital Inferred relationship Some 4
Congenital pes cavus of right foot Occurrence False Congenital Inferred relationship Some 3
Congenital pes cavus of right foot Occurrence False Congenital Inferred relationship Some 4
Congenital deformity of left upper limb Occurrence True Congenital Inferred relationship Some 1
Umbilical hernia with obstruction but no gangrene Occurrence False Congenital Inferred relationship Some
Autosomal dominant spastic paraplegia type 36 Occurrence False Congenital Inferred relationship Some
Autosomal dominant spastic paraplegia type 4 Occurrence False Congenital Inferred relationship Some
Autosomal recessive spastic paraplegia type 44 Occurrence False Congenital Inferred relationship Some
Autosomal recessive spastic paraplegia type 46 Occurrence False Congenital Inferred relationship Some
Autosomal recessive spastic paraplegia type 53 Occurrence False Congenital Inferred relationship Some
Autosomal recessive spastic paraplegia type 54 Occurrence False Congenital Inferred relationship Some
Autosomal recessive spastic paraplegia type 57 Occurrence False Congenital Inferred relationship Some
Grant syndrome Occurrence False Congenital Inferred relationship Some 2
Keratosis follicularis, dwarfism, cerebral atrophy syndrome Occurrence False Congenital Inferred relationship Some 5
Keratosis follicularis, dwarfism, cerebral atrophy syndrome Occurrence False Congenital Inferred relationship Some 6
Keratosis follicularis, dwarfism, cerebral atrophy syndrome Occurrence False Congenital Inferred relationship Some 7
Autosomal recessive spastic paraplegia type 55 Occurrence False Congenital Inferred relationship Some
RHYNS syndrome Occurrence True Congenital Inferred relationship Some 4
RHYNS syndrome Occurrence False Congenital Inferred relationship Some 5
Patterson Stevenson Fontaine syndrome Occurrence True Congenital Inferred relationship Some 2
Patterson Stevenson Fontaine syndrome Occurrence False Congenital Inferred relationship Some 3
Paternal 20q13.2q13.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
Paternal 20q13.2q13.3 microdeletion syndrome Occurrence False Congenital Inferred relationship Some 3
Congenital hypoplasia of patella Occurrence True Congenital Inferred relationship Some 1
Congenital bilateral pes planus Occurrence True Congenital Inferred relationship Some 2
Congenital bilateral pes planus Occurrence False Congenital Inferred relationship Some 3
Gingival cysts of infant Occurrence False Congenital Inferred relationship Some
Schimke immuno-osseous dysplasia Occurrence False Congenital Inferred relationship Some 4
Parkes Weber syndrome Occurrence True Congenital Inferred relationship Some 2
Angio-osteohypertrophic syndrome Occurrence True Congenital Inferred relationship Some 2
Angio-osteohypertrophic syndrome Occurrence False Congenital Inferred relationship Some 3
Congenital mallet toe Occurrence True Congenital Inferred relationship Some 1
Cleft upper lip, upper jaw AND palate Occurrence False Congenital Inferred relationship Some
Cheilognathouranoschisis Occurrence False Congenital Inferred relationship Some
Coarctation of aortic arch Occurrence True Congenital Inferred relationship Some 1
Clinodactyly of toe Occurrence True Congenital Inferred relationship Some 1
Cheilognathopalatoschisis Occurrence False Congenital Inferred relationship Some
Richieri Costa Pereira syndrome Occurrence True Congenital Inferred relationship Some 2
Richieri Costa Pereira syndrome Occurrence False Congenital Inferred relationship Some 3
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome Occurrence True Congenital Inferred relationship Some 2
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome Occurrence False Congenital Inferred relationship Some 3
Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome Occurrence False Congenital Inferred relationship Some 1
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome Occurrence True Congenital Inferred relationship Some 2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome Occurrence False Congenital Inferred relationship Some 3
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome Occurrence False Congenital Inferred relationship Some 4
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome Occurrence False Congenital Inferred relationship Some 5
Hepatic veno-occlusive disease with immunodeficiency syndrome Occurrence False Congenital Inferred relationship Some 3
Frontonasal dysplasia with alopecia and genital anomaly syndrome Occurrence False Congenital Inferred relationship Some 5
Frontonasal dysplasia with alopecia and genital anomaly syndrome Occurrence False Congenital Inferred relationship Some 6
Frontonasal dysplasia with alopecia and genital anomaly syndrome Occurrence False Congenital Inferred relationship Some 7
DPM3-CDG - dolichyl-phosphate mannosyltransferase 3 congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
46,XY partial gonadal dysgenesis Occurrence True Congenital Inferred relationship Some 1
Acyl-CoA dehydrogenase 9 deficiency Occurrence True Congenital Inferred relationship Some 1
Thoracodidymus Occurrence True Congenital Inferred relationship Some 2
Thoracodidymus Occurrence False Congenital Inferred relationship Some 3
Weill-Marchesani syndrome Occurrence True Congenital Inferred relationship Some 2
Monocephalus tripus dibrachius Occurrence True Congenital Inferred relationship Some 2
Monocephalus tripus dibrachius Occurrence False Congenital Inferred relationship Some 3
Scaphocephaly Occurrence False Congenital Inferred relationship Some 3
Acardiacus anceps Occurrence True Congenital Inferred relationship Some 1
Acardiacus anceps Occurrence False Congenital Inferred relationship Some 4
Diplopodia Occurrence True Congenital Inferred relationship Some 1
Syncephalus Occurrence True Congenital Inferred relationship Some 2
Syncephalus Occurrence False Congenital Inferred relationship Some 3
Katadidymus Occurrence True Congenital Inferred relationship Some 2
Katadidymus Occurrence False Congenital Inferred relationship Some 3
Heterodymus Occurrence True Congenital Inferred relationship Some 2
Heterodymus Occurrence False Congenital Inferred relationship Some 3
Cephalothoracopagus Occurrence False Congenital Inferred relationship Some 3
Omocephalus Occurrence True Congenital Inferred relationship Some 2
Omocephalus Occurrence False Congenital Inferred relationship Some 3
Deradelphus Occurrence True Congenital Inferred relationship Some 2
Deradelphus Occurrence False Congenital Inferred relationship Some 3
Monocephalus Occurrence True Congenital Inferred relationship Some 2
Monocephalus Occurrence False Congenital Inferred relationship Some 3
Congenital varus deformity of foot Occurrence True Congenital Inferred relationship Some 1
Celosomus Occurrence False Congenital Inferred relationship Some 2
Cryptodidymus Occurrence False Congenital Inferred relationship Some 2
Cryptodidymus Occurrence False Congenital Inferred relationship Some 3
Parasitic twin of asymmetrical conjoined twins Occurrence True Congenital Inferred relationship Some 2
Parasitic twin of asymmetrical conjoined twins Occurrence False Congenital Inferred relationship Some 3
Diprosopus tetrophthalmus Occurrence False Congenital Inferred relationship Some 2
Ethmocephalus Occurrence False Congenital Inferred relationship Some 2
Janiceps Occurrence True Congenital Inferred relationship Some 2

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Reference Sets

Qualifier value foundation reference set

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