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
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Distal 17p13.1 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Distal 17p13.1 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital deafness with labyrinthine aplasia, microtia and microdontia	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital deafness with labyrinthine aplasia, microtia and microdontia	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital deafness with labyrinthine aplasia, microtia and microdontia	Occurrence	True	Congenital	Inferred relationship	Some	2
Familial bicuspid aortic valve (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal monosomy 14q syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal monosomy 14q syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Desmin-related myofibrillar myopathy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital upper esophageal web	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital stenosis of cervical spinal canal (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Brachydactyly type B2 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Brachydactyly type B2 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectasia of right atrial appendage (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Type 2 lissencephaly	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hypoplasia of entire upper limb (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Type 1 lissencephaly	Occurrence	True	Congenital	Inferred relationship	Some	1
Prader-Willi-like syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Prader-Willi-like syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Prader-Willi-like syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked spondyloepimetaphyseal dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 6	Occurrence	True	Congenital	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 13	Occurrence	True	Congenital	Inferred relationship	Some	1
Non-distal trisomy 10q	Occurrence	True	Congenital	Inferred relationship	Some	1
Ring chromosome 12 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Isochromosomy Yq (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Pseudounicornuate uterus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital right ventricular aneurysm	Occurrence	True	Congenital	Inferred relationship	Some	1
Progeroid syndrome Petty type	Occurrence	True	Congenital	Inferred relationship	Some	1
Microcephalic primordial dwarfism Dauber type	Occurrence	True	Congenital	Inferred relationship	Some	1
Microcephalic primordial dwarfism Dauber type	Occurrence	True	Congenital	Inferred relationship	Some	2
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Maternal uniparental disomy of chromosome 13	Occurrence	True	Congenital	Inferred relationship	Some	1
Lissencephaly type 1 due to doublecortin gene mutation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Isolated lissencephaly type 1 without known genetic defect (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Microlissencephaly micromelia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Craniotelencephalic dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Lower limb malformation hypospadias syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Lower limb malformation hypospadias syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Macrodactyly of thumb (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal monosomy 19p13.3 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal monosomy 19p13.3 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Crossed polysyndactyly (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Crossed polysyndactyly (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Choanal atresia with radial ray hypoplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Lissencephaly	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hypoplasia of part of upper limb	Occurrence	True	Congenital	Inferred relationship	Some	1
Robin sequence and oligodactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Robin sequence and oligodactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Miller Dieker syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
10q22.3q23.3 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
10q22.3q23.3 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Autosomal dominant spastic paraplegia type 17 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Athyrotic hypothyroidism sequence (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked cerebral, cerebellar, coloboma syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked cerebral, cerebellar, coloboma syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
X-linked cerebral, cerebellar, coloboma syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
19q13.11 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Lissencephaly due to tubulin alpha 1A mutation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
19p13.12 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Chuvash erythrocytosis	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital cataract of left eye (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Duane's syndrome of bilateral eyes (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Duane's syndrome of bilateral eyes (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital cataract of right eye	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital ptosis of left upper eyelid (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Duane's syndrome of right eye	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital ptosis of bilateral upper eyelids (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital ptosis of bilateral upper eyelids (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital cataract of bilateral eyes (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cataract of bilateral eyes (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital ptosis of right upper eyelid (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Duane's syndrome of left eye (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 58	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 58	Occurrence	False	Congenital	Inferred relationship	Some	2
Benign Samaritan congenital myopathy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
5p13 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
5p13 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
5p13 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary inclusion body myopathy type 4 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
2p21 microdeletion syndrome without cystinuria (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
2p21 microdeletion syndrome without cystinuria (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome	Occurrence	True	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)