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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
Chondroectodermal dysplasia with night blindness syndrome Occurrence True Congenital Inferred relationship Some 3
Chondroectodermal dysplasia with night blindness syndrome Occurrence True Congenital Inferred relationship Some 2
Chondroectodermal dysplasia with night blindness syndrome Occurrence True Congenital Inferred relationship Some 1
Incomplete left cleft lip Occurrence True Congenital Inferred relationship Some 1
Short stature homeobox related short stature Occurrence True Congenital Inferred relationship Some 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence True Congenital Inferred relationship Some 4
Spondyloepimetaphyseal dysplasia Handigodu type Occurrence True Congenital Inferred relationship Some 1
Right aortic arch and right descending aorta Occurrence True Congenital Inferred relationship Some 1
Odonto onycho dysplasia with alopecia syndrome Occurrence True Congenital Inferred relationship Some 2
Odonto onycho dysplasia with alopecia syndrome Occurrence True Congenital Inferred relationship Some 1
Odonto onycho dysplasia with alopecia syndrome Occurrence False Congenital Inferred relationship Some 3
Odonto onycho dysplasia with alopecia syndrome Occurrence True Congenital Inferred relationship Some 4
Double aortic arch Occurrence True Congenital Inferred relationship Some 1
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Mosaic trisomy 12 Occurrence True Congenital Inferred relationship Some 1
Hypotonia, speech impairment, severe cognitive delay syndrome Occurrence True Congenital Inferred relationship Some 1
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Occurrence True Congenital Inferred relationship Some 1
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Occurrence True Congenital Inferred relationship Some 2
Mosaic trisomy 17 syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 19 Occurrence False Congenital Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 19 Occurrence False Congenital Inferred relationship Some 1
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome Occurrence False Congenital Inferred relationship Some 1
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Occurrence False Congenital Inferred relationship Some 2
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Occurrence False Congenital Inferred relationship Some 3
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Occurrence False Congenital Inferred relationship Some 1
Fetal akinesia, cerebral and retinal haemorrhage syndrome Occurrence True Congenital Inferred relationship Some 1
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 4
Spastic paraplegia, neuropathy, poikiloderma syndrome Occurrence False Congenital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 31 Occurrence False Congenital Inferred relationship Some 1
Congenital muscular dystrophy with hyperlaxity Occurrence True Congenital Inferred relationship Some 1
Constitutional mismatch repair deficiency syndrome Occurrence True Congenital Inferred relationship Some 1
Complete right cleft lip Occurrence True Congenital Inferred relationship Some 1
Complete left cleft lip Occurrence True Congenital Inferred relationship Some 1
Spastic paraplegia, facial cutaneous lesion syndrome Occurrence False Congenital Inferred relationship Some 1
Mosaic trisomy 2 syndrome Occurrence True Congenital Inferred relationship Some 1
Cerebrofacioarticular syndrome Occurrence True Congenital Inferred relationship Some 1
Porencephaly, cerebellar hypoplasia, internal malformations syndrome Occurrence True Congenital Inferred relationship Some 2
Porencephaly, cerebellar hypoplasia, internal malformations syndrome Occurrence True Congenital Inferred relationship Some 1
Cowden syndrome Occurrence True Congenital Inferred relationship Some 1
Distal monosomy 13q syndrome Occurrence True Congenital Inferred relationship Some 1
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome Occurrence True Congenital Inferred relationship Some 4
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Occurrence True Congenital Inferred relationship Some 5
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Occurrence True Congenital Inferred relationship Some 1
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Occurrence True Congenital Inferred relationship Some 2
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Occurrence True Congenital Inferred relationship Some 6
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Occurrence True Congenital Inferred relationship Some 3
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Occurrence True Congenital Inferred relationship Some 4
Autosomal dominant spastic paraplegia type 41 Occurrence False Congenital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 41 Occurrence False Congenital Inferred relationship Some 2
Oro-facial digital syndrome type 12 Occurrence True Congenital Inferred relationship Some 4
Oro-facial digital syndrome type 12 Occurrence True Congenital Inferred relationship Some 6
Oro-facial digital syndrome type 12 Occurrence True Congenital Inferred relationship Some 5
Oro-facial digital syndrome type 12 Occurrence True Congenital Inferred relationship Some 2
Oro-facial digital syndrome type 12 Occurrence True Congenital Inferred relationship Some 3
Oro-facial digital syndrome type 12 Occurrence True Congenital Inferred relationship Some 1
X-linked spastic paraplegia type 34 Occurrence False Congenital Inferred relationship Some 1
X-linked spastic paraplegia type 34 Occurrence False Congenital Inferred relationship Some 2
Focal palmoplantar and gingival keratoderma Occurrence False Congenital Inferred relationship Some 1
Focal palmoplantar and gingival keratoderma Occurrence False Congenital Inferred relationship Some 2
Macrocephaly and developmental delay syndrome Occurrence True Congenital Inferred relationship Some 1
Spastic ataxia with congenital miosis Occurrence True Congenital Inferred relationship Some 1
Mosaic trisomy 20 syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 28 Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 28 Occurrence False Congenital Inferred relationship Some 2
Laubry Pezzi syndrome Occurrence True Congenital Inferred relationship Some 1
Neonatal Marfan syndrome Occurrence True Congenital Inferred relationship Some 1
Neonatal Marfan syndrome Occurrence True Congenital Inferred relationship Some 2
Neonatal Marfan syndrome Occurrence True Congenital Inferred relationship Some 3
Proximal chromosome 18q deletion syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 42 Occurrence False Congenital Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 42 Occurrence False Congenital Inferred relationship Some 1
Double aortic arch with right arch dominant and left arch patent Occurrence True Congenital Inferred relationship Some 1
Keipert syndrome Occurrence True Congenital Inferred relationship Some 3
Keipert syndrome Occurrence True Congenital Inferred relationship Some 1
Keipert syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital patent ductus arteriosus aneurysm Occurrence True Congenital Inferred relationship Some 1
Double aortic arch with right arch dominant and coarctation of left arch Occurrence True Congenital Inferred relationship Some 2
Conductive deafness, ptosis, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Some 1
Distal monosomy 7q36 Occurrence True Congenital Inferred relationship Some 1
Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy Occurrence True Congenital Inferred relationship Some 1
Bilateral complete cleft lip and bilateral complete cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 1
Laing early-onset distal myopathy Occurrence False Congenital Inferred relationship Some 1
Oro-facial digital syndrome type 13 Occurrence True Congenital Inferred relationship Some 4
Oro-facial digital syndrome type 13 Occurrence True Congenital Inferred relationship Some 2
Oro-facial digital syndrome type 13 Occurrence True Congenital Inferred relationship Some 1
Oro-facial digital syndrome type 13 Occurrence True Congenital Inferred relationship Some 5
Oro-facial digital syndrome type 13 Occurrence True Congenital Inferred relationship Some 3
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome Occurrence False Congenital Inferred relationship Some 2
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome Occurrence True Congenital Inferred relationship Some 1
Curly hair, acral keratoderma, caries syndrome Occurrence True Congenital Inferred relationship Some 2
Curly hair, acral keratoderma, caries syndrome Occurrence True Congenital Inferred relationship Some 3
Curly hair, acral keratoderma, caries syndrome Occurrence True Congenital Inferred relationship Some 1
Mosaic trisomy 7 syndrome Occurrence True Congenital Inferred relationship Some 1
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Occurrence True Congenital Inferred relationship Some 2
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Occurrence False Congenital Inferred relationship Some 6
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Occurrence True Congenital Inferred relationship Some 3
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Occurrence True Congenital Inferred relationship Some 5
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Occurrence True Congenital Inferred relationship Some 4
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Occurrence True Congenital Inferred relationship Some 1
Male infertility with teratozoospermia due to single gene mutation Occurrence False Congenital Inferred relationship Some 5
Distal monosomy 9p Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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