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
Embryopathy caused by phenobarbital (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Distal partial deletion of long arm of chromosome 11 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Distal partial deletion of long arm of chromosome 11 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Mirror hands and feet co-occurrent with nasal defect (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Mirror hands and feet co-occurrent with nasal defect (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
McDonough syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Syndactyly of fingers type 8 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Delayed membranous cranial ossification (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Delayed membranous cranial ossification (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Deafness and oligodontia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Deafness and oligodontia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Tetrasomy of short arm of chromosome 9 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Tibial aplasia and ectrodactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Tibial aplasia and ectrodactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Weismann Netter syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Naxos disease	Occurrence	True	Congenital	Inferred relationship	Some	4
Naxos disease	Occurrence	False	Congenital	Inferred relationship	Some	5
Naxos disease	Occurrence	False	Congenital	Inferred relationship	Some	6
Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital epithelial dysplasia of intestine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital epithelial dysplasia of intestine (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Microphthalmos co-occurrent with congenital ocular coloboma (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Spastic paraplegia type 7 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type B (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type C (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type D (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Lissencephaly with cerebellar hypoplasia type F	Occurrence	False	Congenital	Inferred relationship	Some	3
Ophthalmomandibulomelic dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Ophthalmomandibulomelic dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Autosomal recessive distal osteolysis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Autosomal recessive distal osteolysis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Autosomal recessive spastic paraplegia type 11 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Rhizomelic dysplasia of Patterson Lowry type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Syndactyly type 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Syndactyly type 2 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Syndactyly type 2 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Syndactyly type 3 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Pituitary stalk interruption syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital absence of half of thyroid (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 20 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 20 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Lissencephaly type 1 due to doublecortin gene mutation (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Acrocallosal syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Acrocallosal syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Acrocallosal syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	7
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8
Microphthalmos co-occurrent with congenital ocular coloboma (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Autosomal recessive distal osteolysis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Phocomelia Schinzel type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Phocomelia Schinzel type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Chondrodysplasia punctata Toriello type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Oculocutaneous albinism type 4 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Oculocutaneous albinism type 4 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Atypical Werner syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Glomuvenous malformation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Goniodysgenesis with intellectual disability and short stature syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Gnathodiaphyseal dysplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Mesomelic dysplasia Savarirayan type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Spondyloocular syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Retinal dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Multifocal retinal dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Diffuse retinal dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal arthrogryposis type 2B (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal arthrogryposis type 5 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked retinal dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
X-linked retinal dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Selig-Benacerraf-Greenes syndrom	Occurrence	False	Congenital	Inferred relationship	Some	1
Ulna metaphyseal dysplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Neurofibromatosis Noonan syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
17q-deletionssyndromet	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive cerebelloparenchymal disorder type 3 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Ameloonychohypohidrotic syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Ameloonychohypohidrotic syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Isolated lissencephaly type 1 without known genetic defect (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Trigonocephaly C syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Trigonocephaly C syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Lethal congenital contracture syndrome type 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Lethal congenital contracture syndrome type 2 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Lethal congenital contracture syndrome type 3 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Craniofrontonasal dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Craniotelencephalic dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Acromelic frontonasal dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Embryofetopathy caused by indomethacin (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
multipel lokalisation av icke-benbildande fibromatos	Occurrence	False	Congenital	Inferred relationship	Some	2
Holoprosencephaly craniosynostosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2

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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)