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255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Case insensitive SNOMED CT core
380599019 Congenita en Synonym Active Case insensitive SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Case insensitive SNOMED CT core

0 descendants.

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
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Some 3
Leukonychia totalis, trichilemmal cysts, ciliary dystrophy syndrome Occurrence True Congenital Inferred relationship Some 2
Leukonychia totalis, trichilemmal cysts, ciliary dystrophy syndrome Occurrence True Congenital Inferred relationship Some 1
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Occurrence True Congenital Inferred relationship Some 2
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Occurrence True Congenital Inferred relationship Some 1
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Occurrence True Congenital Inferred relationship Some 3
Dandy-Walker syndrome Occurrence True Congenital Inferred relationship Some 1
Dandy-Walker syndrome with spina bifida Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital retroversion of femurs Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital retroversion of femurs Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, severe speech delay, mild dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital genu varum of left knee Occurrence True Congenital Inferred relationship Some 1
Brachydactyly of finger of right hand Occurrence True Congenital Inferred relationship Some 1
Brachydactyly of finger of left hand Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital overriding toes of feet Occurrence True Congenital Inferred relationship Some 3
Bilateral congenital overriding toes of feet Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital overriding toes of feet Occurrence False Congenital Inferred relationship Some 5
Bilateral congenital overriding toes of feet Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital overriding toes of feet Occurrence True Congenital Inferred relationship Some 4
Congenital overriding toes of right foot Occurrence True Congenital Inferred relationship Some 1
Congenital overriding toes of right foot Occurrence False Congenital Inferred relationship Some 3
Congenital overriding toes of right foot Occurrence True Congenital Inferred relationship Some 2
Bilateral brachydactyly of finger of hands Occurrence True Congenital Inferred relationship Some 1
Bilateral brachydactyly of finger of hands Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital pes valgo planus of feet Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital pes valgo planus of feet Occurrence True Congenital Inferred relationship Some 2
Congenital genu varum of right knee Occurrence True Congenital Inferred relationship Some 1
Congenital overriding toes of left foot Occurrence True Congenital Inferred relationship Some 2
Congenital overriding toes of left foot Occurrence True Congenital Inferred relationship Some 1
Congenital overriding toes of left foot Occurrence False Congenital Inferred relationship Some 3
Bilateral congenital deformity of feet Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital deformity of feet Occurrence True Congenital Inferred relationship Some 1
Congenital anteversion of left femur Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of left foot Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of right foot Occurrence True Congenital Inferred relationship Some 1
Congenital anteversion of right femur Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital anteversion of femurs Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital anteversion of femurs Occurrence True Congenital Inferred relationship Some 2
Oculopharyngeal muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Calcaneonavicular bar Occurrence True Congenital Inferred relationship Some 1
Temtamy preaxial brachydactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Temtamy preaxial brachydactyly syndrome Occurrence True Congenital Inferred relationship Some 4
Temtamy preaxial brachydactyly syndrome Occurrence True Congenital Inferred relationship Some 3
Temtamy preaxial brachydactyly syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 9 Occurrence True Congenital Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 9 Occurrence True Congenital Inferred relationship Some 1
Brachytelephalangic chondrodysplasia punctata Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant prognathism of mandible Occurrence True Congenital Inferred relationship Some 1
Duplication of pituitary gland Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant primary microcephaly Occurrence True Congenital Inferred relationship Some 1
12p12.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
12p12.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
3q26 microduplication syndrome Occurrence True Congenital Inferred relationship Some 1
3q26 microduplication syndrome Occurrence True Congenital Inferred relationship Some 2
Other congenital anomalies of peripheral veins Occurrence False Congenital Inferred relationship Some
Other congenital anomalies of peripheral arteries Occurrence False Congenital Inferred relationship Some
Fibroblast growth factor receptor 2-related bent bone dysplasia Occurrence True Congenital Inferred relationship Some 1
Fibroblast growth factor receptor 2-related bent bone dysplasia Occurrence True Congenital Inferred relationship Some 2
Congenital dyserythropoiesis NEC Occurrence False Congenital Inferred relationship Some
Congenital agranulocytosis NEC Occurrence False Congenital Inferred relationship Some
Didymosis aplasticosebacea Occurrence True Congenital Inferred relationship Some 3
Didymosis aplasticosebacea Occurrence True Congenital Inferred relationship Some 2
Didymosis aplasticosebacea Occurrence True Congenital Inferred relationship Some 1
Severe intellectual disability and progressive spastic paraplegia Occurrence False Congenital Inferred relationship Some 2
Severe intellectual disability and progressive spastic paraplegia Occurrence False Congenital Inferred relationship Some 1
Severe dermatitis, multiple allergies, metabolic wasting syndrome Occurrence True Congenital Inferred relationship Some 1
Temple syndrome Occurrence True Congenital Inferred relationship Some 1
MT-ATP6-related mitochondrial spastic paraplegia Occurrence False Congenital Inferred relationship Some 1
MT-ATP6-related mitochondrial spastic paraplegia Occurrence False Congenital Inferred relationship Some 2
Bicornuate uterus in pregnancy, childbirth or puerperium NOS Occurrence False Congenital Inferred relationship Some
Lipofuscinosis NEC Occurrence False Congenital Inferred relationship Some
Blepharophimosis, intellectual disability syndrome, Verloes type Occurrence True Congenital Inferred relationship Some 1
Local gigantism NEC Occurrence False Congenital Inferred relationship Some
Aqueduct of Sylvius septum NEC Occurrence False Congenital Inferred relationship Some
Aplasia of part of brain NEC Occurrence False Congenital Inferred relationship Some
Hypoplasia of part of brain NEC Occurrence False Congenital Inferred relationship Some
Agenesis of part of brain NEC Occurrence False Congenital Inferred relationship Some
Absence of ear NOS Occurrence False Congenital Inferred relationship Some
Other ear tag Occurrence False Congenital Inferred relationship Some
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome Occurrence True Congenital Inferred relationship Some 2
Other ear appendage Occurrence False Congenital Inferred relationship Some
Fusion of tricuspid valve cusps NEC Occurrence False Congenital Inferred relationship Some
Congenital insufficiency of heart valve NEC Occurrence False Congenital Inferred relationship Some
Hypoplasia of heart NOS Occurrence False Congenital Inferred relationship Some
Autosomal recessive spastic paraplegia type 27 Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 27 Occurrence False Congenital Inferred relationship Some 2
Ehlers-Danlos syndrome due to tenascin-X deficiency Occurrence True Congenital Inferred relationship Some 2
Ehlers-Danlos syndrome due to tenascin-X deficiency Occurrence True Congenital Inferred relationship Some 1
Transposition of arterial trunk NEC Occurrence False Congenital Inferred relationship Some
Other specified atrial septal defect Occurrence False Congenital Inferred relationship Some
Interatrial septal defect NEC Occurrence False Congenital Inferred relationship Some
Auricular septal defect NOS Occurrence False Congenital Inferred relationship Some
Syndromic multisystem autoimmune disease due to ITCH deficiency Occurrence True Congenital Inferred relationship Some 1
Ectopic digestive organs NOS Occurrence False Congenital Inferred relationship Some
Congenital giant colon NEC Occurrence False Congenital Inferred relationship Some
Malfixation of gut NEC Occurrence False Congenital Inferred relationship Some
Intersex NEC Occurrence False Congenital Inferred relationship Some
Renal duplication NEC Occurrence False Congenital Inferred relationship Some
Monocytopenia with susceptibility to infections Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of musculoskeletal system NEC Occurrence False Congenital Inferred relationship Some

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Reference Sets

Qualifier value foundation reference set

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