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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
AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Pancytopenia with developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Piebald trait with neurologic defects syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Peripheral dysostosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Polyglucosan body myopathy type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Progeroid and marfanoid aspect, lipodystrophy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Progeroid and marfanoid aspect, lipodystrophy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Progeroid and marfanoid aspect, lipodystrophy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Leukonychia totalis, trichilemmal cysts, ciliary dystrophy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Leukonychia totalis, trichilemmal cysts, ciliary dystrophy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Sebaceous nevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented nevus syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Sebaceous nevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented nevus syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Sebaceous nevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented nevus syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Dandy-Walker syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Dandy-Walker syndrome with spina bifida Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital retroversion of bilateral femurs Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital retroversion of bilateral femurs Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability, severe speech delay, mild dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital genu varum of left knee Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Brachydactyly of finger of right hand Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Brachydactyly of finger of left hand Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital overriding toes of bilateral feet Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Congenital overriding toes of bilateral feet Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital overriding toes of bilateral feet Occurrence False Congenital Inferred relationship Existential restriction modifier 5
Congenital overriding toes of bilateral feet Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital overriding toes of bilateral feet Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Congenital overriding toes of right foot Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital overriding toes of right foot Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Congenital overriding toes of right foot Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Brachydactyly of finger of bilateral hands Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Brachydactyly of finger of bilateral hands Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital pes valgo planus of bilateral feet Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital pes valgo planus of bilateral feet Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital genu varum of right knee Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital overriding toes of left foot Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital overriding toes of left foot Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital overriding toes of left foot Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Congenital deformity of bilateral feet Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital deformity of bilateral feet Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital anteversion of left femur Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital deformity of left foot Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital deformity of right foot Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital anteversion of right femur Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital anteversion of bilateral femurs Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital anteversion of bilateral femurs Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oculopharyngeal muscular dystrophy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Calcaneonavicular bar Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Temtamy preaxial brachydactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Temtamy preaxial brachydactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Temtamy preaxial brachydactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Temtamy preaxial brachydactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital pontocerebellar hypoplasia type 9 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital pontocerebellar hypoplasia type 9 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Brachytelephalangic chondrodysplasia punctata Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant prognathism of mandible Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Duplication of pituitary gland Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant primary microcephaly Occurrence True Congenital Inferred relationship Existential restriction modifier 1
12p12.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
12p12.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
3q26 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
3q26 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Fibroblast growth factor receptor 2-related bent bone dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Fibroblast growth factor receptor 2-related bent bone dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Didymosis aplasticosebacea Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Didymosis aplasticosebacea Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Didymosis aplasticosebacea Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Severe intellectual disability and progressive spastic paraplegia Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Severe intellectual disability and progressive spastic paraplegia Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Severe dermatitis, multiple allergies, metabolic wasting syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Temple syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Blepharophimosis, intellectual disability syndrome, Verloes type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Autosomal recessive spastic paraplegia type 27 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive spastic paraplegia type 27 Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Ehlers-Danlos syndrome due to tenascin-X deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Ehlers-Danlos syndrome due to tenascin-X deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Monocytopenia with susceptibility to infections Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Lethal polymalformative syndrome Boissel type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
3q26q27 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
3q26q27 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive cutis laxa type 2B Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive cutis laxa type 2B Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3

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