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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
Erythema palmare hereditarium Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive exfoliative ichthyosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Kelch like family member 9 related early-onset distal myopathy Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Mirror hands and feet co-occurrent with nasal defect Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Polysyndactyly and cardiac malformation syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Complete left cleft lip and complete cleft of left alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Complete right cleft lip and complete cleft of right alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Bilateral complete cleft lip and bilateral complete cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Bilateral complete cleft lip and bilateral complete cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Macrocephaly and developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Malan overgrowth syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Cleft of alveolar ridge Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Agenesis of corpus callosum and abnormal genitalia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Microcephalus, complex motor and sensory axonal neuropathy syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Oculoauricular syndrome Schorderet type Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Odonto onycho dysplasia with alopecia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Oculopharyngodistal myopathy Occurrence False Congenital Inferred relationship Existential restriction modifier 4
Oculomaxillofacial dysostosis Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital absence of left hand Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mohr syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oral-facial-digital syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Bannayan syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Orofacial-digital syndrome III Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Orofacial-digital syndrome IV Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oro-facial digital syndrome type 9 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oro-facial digital syndrome type 9 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oro-facial digital syndrome type 11 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oro-facial digital syndrome type 11 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Joubert syndrome with orofaciodigital defect Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Joubert syndrome with orofaciodigital defect Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oro-facial digital syndrome type 10 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oro-facial digital syndrome type 10 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oro-facial digital syndrome type 5 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oro-facial digital syndrome type 5 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oro-facial digital syndrome type 8 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oro-facial digital syndrome type 8 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
PTEN hamartoma tumor syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Porencephaly, cerebellar hypoplasia, internal malformations syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Oro-facial digital syndrome type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Oro-facial digital syndrome type 12 Occurrence True Congenital Inferred relationship Existential restriction modifier 7
Oro-facial digital syndrome type 13 Occurrence True Congenital Inferred relationship Existential restriction modifier 6
Oro-facial digital syndrome type 14 Occurrence True Congenital Inferred relationship Existential restriction modifier 6
Otofaciocervical syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Pectus excavatum, macrocephaly, dysplastic nails syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Spondyloperipheral dysplasia with short ulna syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Spina bifida and hypospadias syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 6
Renal hepatic pancreatic dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Myosclerosis Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Primary intraosseous venous malformation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Symbrachydactyly of digit of hand Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Brachydactyly elbow wrist dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Cleft palate and cleft lip with deafness and sacral lipoma syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 3
17q12 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
19p13.13 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Pachygyria, intellectual disability, epilepsy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Action myoclonus renal failure syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cardiac arrhythmia ankyrin-B related Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal trisomy 11q Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal trisomy 13q Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal trisomy 16q Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mosaic trisomy 10 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Mosaic trisomy 12 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Mosaic trisomy 14 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Distal trisomy 20q syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal trisomy 22q syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal trisomy 2p Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal trisomy 3p Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal trisomy 9q Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Encircling double aortic arch Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Familial focal epilepsy with variable foci Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Familial isolated trichomegaly Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal 22q11.2 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cylindrical spirals myopathy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cheilognathoschisis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cheilognathoprosoposchisis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cleft mandible Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cleft of primary palate Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Bilateral cleft of primary palate Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cleft hard palate with cleft lip, bilateral Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Kapur Toriello syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Bilateral complete cleft lip and bilateral complete cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Craniofacial cleft Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mosaic trisomy 15 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Mosaic trisomy 16 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Mosaic trisomy 17 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Mosaic trisomy 2 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Mosaic trisomy 20 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Mosaic trisomy 22 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Mosaic trisomy 3 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Mosaic trisomy 4 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Mosaic trisomy 5 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Mosaic trisomy 7 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Autosomal recessive spastic paraplegia type 15 Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Autosomal recessive spastic paraplegia type 35 Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Tetrasomy 21 Occurrence True Congenital Inferred relationship Existential restriction modifier 1

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