255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Congenital

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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
Erythema palmare hereditarium	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive exfoliative ichthyosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
KLHL9-related early-onset distal myopathy	Occurrence	False	Congenital	Inferred relationship	Some	2
Mirror hands and feet co-occurrent with nasal defect (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Polysyndactyly and cardiac malformation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Complete left cleft lip and complete cleft of left alveolar process of maxilla (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Complete right cleft lip and complete cleft of right alveolar process of maxilla (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Bilateral complete cleft lip and bilateral complete cleft of alveolar process of maxilla (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Bilateral complete cleft lip and bilateral complete cleft of alveolar process of maxilla (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Macrocephaly and developmental delay syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Malan overgrowth syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Cleft of alveolar ridge (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Agenesis of corpus callosum and abnormal genitalia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Microcephalus, complex motor and sensory axonal neuropathy syndrome	Occurrence	False	Congenital	Inferred relationship	Some	2
Oculoauricular syndrome Schorderet type	Occurrence	True	Congenital	Inferred relationship	Some	2
Odonto onycho dysplasia with alopecia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	5
Oculopharyngodistal myopathy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Oculomaxillofacial dysostosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital absence of left hand	Occurrence	True	Congenital	Inferred relationship	Some	1
Mohr syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Oral-facial-digital syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Bannayan syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Orofacial-digital syndrome III	Occurrence	True	Congenital	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Occurrence	True	Congenital	Inferred relationship	Some	2
Oro-facial digital syndrome type 9 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Oro-facial digital syndrome type 9 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Oro-facial digital syndrome type 11 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Oro-facial digital syndrome type 11 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Joubert syndrome with orofaciodigital defect (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Joubert syndrome with orofaciodigital defect (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Oro-facial digital syndrome type 10 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Oro-facial digital syndrome type 10 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Oro-facial digital syndrome type 5 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Oro-facial digital syndrome type 5 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Oro-facial digital syndrome type 8 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Oro-facial digital syndrome type 8 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
PTEN hamartoma tumor syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Oro-facial digital syndrome type 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Oro-facial digital syndrome type 12	Occurrence	True	Congenital	Inferred relationship	Some	7
Oro-facial digital syndrome type 13	Occurrence	True	Congenital	Inferred relationship	Some	6
Oro-facial digital syndrome type 14	Occurrence	True	Congenital	Inferred relationship	Some	6
Otofaciocervical syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Spondyloperipheral dysplasia with short ulna syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Spina bifida and hypospadias syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Renal hepatic pancreatic dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Myosclerosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Primary intraosseous venous malformation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Symbrachydactyly of digit of hand (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Brachydactyly elbow wrist dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Lowry Yong syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
17q12 microduplication syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
19p13.13 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Pachygyria, intellectual disability, epilepsy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Action myoclonus renal failure syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Ankyrin-B syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal trisomy 11q (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal trisomy 13q (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal trisomy 16q (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mosaic trisomy 10 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Mosaic trisomy 12 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Mosaic trisomy 14 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Distal trisomy 20q syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal trisomy 22q syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal trisomy 2p	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal trisomy 3p (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal trisomy 9q	Occurrence	True	Congenital	Inferred relationship	Some	1
Encircling double aortic arch	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial focal epilepsy with variable foci	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial isolated trichomegaly	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal 22q11.2 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cylindrical spirals myopathy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cheilognathoschisis	Occurrence	True	Congenital	Inferred relationship	Some	1
Cheilognathoprosoposchisis	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft mandible	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft of primary palate	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral cleft of primary palate	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft hard palate with cleft lip, bilateral	Occurrence	True	Congenital	Inferred relationship	Some	1
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Kapur Toriello syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral complete cleft lip and bilateral complete cleft of alveolar process of maxilla (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Craniofacial cleft (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mosaic trisomy 15 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Mosaic trisomy 16 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Mosaic trisomy 17 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Mosaic trisomy 2 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Mosaic trisomy 20 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Mosaic trisomy 22 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Mosaic trisomy 3 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Mosaic trisomy 4 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Mosaic trisomy 5 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Mosaic trisomy 7 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 15	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 35	Occurrence	False	Congenital	Inferred relationship	Some	2
Tetrasomy 21 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1

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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
135131000052119	medfödd	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)