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
Pierre Robin sequence faciodigital anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Pierre Robin sequence faciodigital anomaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Revesz syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Revesz syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	7
Revesz syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8
Talo-patello-scaphoid osteolysis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Talo-patello-scaphoid osteolysis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
X-linked spastic paraplegia type 2 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Accessory left tarsal navicular bone (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Accessory right tarsal navicular bone (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Revesz syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	6
Clastothrix	Occurrence	True	Congenital	Inferred relationship	Some	1
Clastothrix	Occurrence	True	Congenital	Inferred relationship	Some	2
Clastothrix	Occurrence	False	Congenital	Inferred relationship	Some	3
Pierson syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Pierson syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Autosomal recessive aplasia cutis congenita of limb (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Renier-Gabreels-Jaspers syndrom	Occurrence	False	Congenital	Inferred relationship	Some	2
Renier-Gabreels-Jaspers syndrom	Occurrence	False	Congenital	Inferred relationship	Some	3
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Trichothiodystrophy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Trichothiodystrophy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Trichothiodystrophy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Thymic, renal, anal, lung dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Thymic, renal, anal, lung dysplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Thoracolaryngopelvic dysplasia	Occurrence	False	Congenital	Inferred relationship	Some	3
Thoracolaryngopelvic dysplasia	Occurrence	False	Congenital	Inferred relationship	Some	4
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Split hand, split foot malformation with sensorineural hearing loss syndrome	Occurrence	False	Congenital	Inferred relationship	Some	6
Split hand, split foot malformation with sensorineural hearing loss syndrome	Occurrence	False	Congenital	Inferred relationship	Some	7
Split hand, split foot malformation with sensorineural hearing loss syndrome	Occurrence	False	Congenital	Inferred relationship	Some	8
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	9
Sialidosis type 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Severe generalized recessive dystrophic epidermolysis bullosa (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Transient bullous dermolysis of newborn (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Congenital pes cavus of bilateral feet (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Congenital pes cavus of bilateral feet (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Congenital pes cavus of bilateral feet (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Congenital pes cavus of left foot (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital pes cavus of left foot (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Congenital pes cavus of right foot (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital pes cavus of right foot (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Congenital deformity of left upper limb (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 36 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal dominant spastic paraplegia type 4 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 44 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 46 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 53 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 54 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 57 (disorder)	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 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Patterson Stevenson Fontaine syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Patterson Stevenson Fontaine syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Paternal 20q13.2q13.3 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Paternal 20q13.2q13.3 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital hypoplasia of patella (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital pes planus of bilateral feet (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital pes planus of bilateral feet (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Schimke immuno-osseous dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Parkes Weber syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Angio-osteohypertrophic syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Angio-osteohypertrophic syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital mallet toe (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Coarctation of aortic arch (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Clinodactyly of toe (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
syndrom med proximal tubulopati, diabetes mellitus och cerebellär ataxi	Occurrence	False	Congenital	Inferred relationship	Some	1
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6

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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)