FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.9.0  |  FHIR Version n/a  User: [n/a]

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

Start Previous Page 255 of 343 Next End

This concept is not in any reference sets

Back to Start