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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
Double outlet left ventricle Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Double outlet left ventricle Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital tracheocele Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ectopic gray matter in centrum ovale Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Bohn's nodule Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Partial anomalous pulmonary venous connection Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Infection causing congenital anomaly Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Ehlers-Danlos syndrome, familial joint laxity type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Omphalocele - irreducible Occurrence True Congenital Inferred relationship Existential restriction modifier 2
RAB18, member RAS oncogene family deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
RAB18, member RAS oncogene family deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Warburg micro syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Warburg micro syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Warburg micro syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cyst of left preauricular region Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cyst of right preauricular region Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cyst of bilateral preauricular regions Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Cyst of bilateral preauricular regions Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Proximal interphalangeal joint symphalangism Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal interphalangeal joint symphalangism Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked intellectual disability, craniofacioskeletal syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Familial osteodysplasia Anderson type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Familial osteodysplasia Anderson type Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Ehlers-Danlos syndrome spondylocheirodysplastic type Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Ehlers-Danlos syndrome spondylocheirodysplastic type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Postaxial polydactyly, dental, vertebral anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Postaxial polydactyly, dental, vertebral anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Postaxial polydactyly, dental, vertebral anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Thakker Donnai syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Maternal uniparental disomy of chromosome 16 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Spondyloepimetaphyseal dysplasia Bieganski type Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Spondylometaphyseal dysplasia Golden type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Spondyloepimetaphyseal dysplasia Genevieve type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Spondyloepimetaphyseal dysplasia Genevieve type Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Zechi Ceide syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Zechi Ceide syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Zechi Ceide syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Zechi Ceide syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Macrosomia, microphthalmia, cleft palate syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hydrocephalus, blue sclera, nephropathy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hydrocephalus, blue sclera, nephropathy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Hydrocephalus, blue sclera, nephropathy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Congenital lethal myopathy Compton North type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital lethal myopathy Compton North type Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Amniotic adhesion Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Xeroderma pigmentosum and Cockayne syndrome complex Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Malignant hyperthermia with arthrogryposis and torticollis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
20p13 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
20p13 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Keratoderma hereditarium mutilans with ichthyosis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Lack of ossification of vomer Occurrence True Congenital Inferred relationship Existential restriction modifier 2
CK syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Lymphedema hypoparathyroidism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Lack of ossification of premaxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Multiple lentigines syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cervical spinal hydromeningocele Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 4
Congenital vaginal enterocele Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital vaginal enterocele Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal 7q11.23 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal 7q11.23 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
7q31 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
7q31 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Nestor Guillermo progeria syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Nestor Guillermo progeria syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Craniosynostosis and dental anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Craniosynostosis and dental anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Contiguous ABCD1 DXS1357E deletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Contiguous ABCD1 DXS1357E deletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Xylosyltransferase 1 congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive frontotemporal pachygyria Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mandibular hypoplasia, deafness, progeroid syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Mandibular hypoplasia, deafness, progeroid syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Mandibular hypoplasia, deafness, progeroid syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability, facial dysmorphism, hand anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Intellectual disability, facial dysmorphism, hand anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Lamin A/C related cardiocutaneous progeria syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Distal arthrogryposis type 5D Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Roifman syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Roifman syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive spastic paraplegia type 59 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive spastic paraplegia type 59 Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Hydromeningocele Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Hydromeningocele Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Streak gonad Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital hiatus hernia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital hiatus hernia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oligodontia and cancer predisposition syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1

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