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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
Mandibular hypoplasia, deafness, progeroid syndrome Occurrence True Congenital Inferred relationship Some 3
Other accessory toe Occurrence False Congenital Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, facial dysmorphism, hand anomalies syndrome Occurrence True Congenital Inferred relationship Some 2
Intellectual disability, facial dysmorphism, hand anomalies syndrome Occurrence True Congenital Inferred relationship Some 1
LMNA-related cardiocutaneous progeria syndrome Occurrence True Congenital Inferred relationship Some 3
Polydactyly NOS Occurrence False Congenital Inferred relationship Some
Distal arthrogryposis type 5D Occurrence True Congenital Inferred relationship Some 1
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 3
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Occurrence True Congenital Inferred relationship Some 1
Syndactyly of multiple digits, unspecified Occurrence False Congenital Inferred relationship Some
Roifman syndrome Occurrence True Congenital Inferred relationship Some 2
Roifman syndrome Occurrence True Congenital Inferred relationship Some 1
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
Ectromelia of upper limb NOS Occurrence False Congenital Inferred relationship Some
Autosomal recessive spastic paraplegia type 59 Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 59 Occurrence False Congenital Inferred relationship Some 2
Hemimelia of upper limb NOS Occurrence False Congenital Inferred relationship Some
Unspecified congenital shortening of arm NOS Occurrence False Congenital Inferred relationship Some
Transverse deficiency of arm, unspecified Occurrence False Congenital Inferred relationship Some
Longitudinal deficiency of arm NEC Occurrence False Congenital Inferred relationship Some
Phocomelia of upper limb NOS Occurrence False Congenital Inferred relationship Some
Longitudinal deficiency of arm NEC NOS Occurrence False Congenital Inferred relationship Some
Transverse arrest metacarpal other Occurrence False Congenital Inferred relationship Some
Congenital absence finger NOS Occurrence False Congenital Inferred relationship Some
Other specified reduction deformities of upper limb Occurrence False Congenital Inferred relationship Some
Ectromelia of lower limb NOS Occurrence False Congenital Inferred relationship Some
Hemimelia of lower limb NOS Occurrence False Congenital Inferred relationship Some
Unspecified congenital leg shortening NOS Occurrence False Congenital Inferred relationship Some
Transverse deficiency lower limb - unspecified Occurrence False Congenital Inferred relationship Some
Transverse deficiency of leg NOS Occurrence False Congenital Inferred relationship Some
Agenesis of other tarsal bone Occurrence False Congenital Inferred relationship Some
Agenesis of other metatarsal Occurrence False Congenital Inferred relationship Some
Agenesis of other multiple metatarsal Occurrence False Congenital Inferred relationship Some
Hydromeningocele Occurrence False Congenital Inferred relationship Some 2
Hydromeningocele Occurrence False Congenital Inferred relationship Some 1
Streak gonad Occurrence True Congenital Inferred relationship Some 1
Congenital absence of other lesser toe Occurrence False Congenital Inferred relationship Some
Congenital absence of other multiple toes Occurrence False Congenital Inferred relationship Some
Congenital hiatus hernia Occurrence True Congenital Inferred relationship Some 2
Congenital hiatus hernia Occurrence True Congenital Inferred relationship Some 1
Oligodontia and cancer predisposition syndrome Occurrence True Congenital Inferred relationship Some 1
Oligodontia and cancer predisposition syndrome Occurrence True Congenital Inferred relationship Some 2
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Occurrence True Congenital Inferred relationship Some 5
Other specified reduction deformities of lower limb Occurrence False Congenital Inferred relationship Some
Reduction deformity of unspecified limb Occurrence False Congenital Inferred relationship Some
Congenital spinal hydromeningocele Occurrence False Congenital Inferred relationship Some 1
Congenital spinal hydromeningocele Occurrence False Congenital Inferred relationship Some 3
Congenital spinal hydromeningocele Occurrence False Congenital Inferred relationship Some 4
Congenital absence of limb NOS Occurrence False Congenital Inferred relationship Some
Amelia of unspecified limb Occurrence False Congenital Inferred relationship Some
9q31.1q31.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
9q31.1q31.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 3
9q31.1q31.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
Split hand, split foot malformation with sensorineural hearing loss syndrome Occurrence True Congenital Inferred relationship Some 5
Split hand, split foot malformation with sensorineural hearing loss syndrome Occurrence True Congenital Inferred relationship Some 4
Ectromelia of unspecified limb Occurrence False Congenital Inferred relationship Some
Hemimelia of unspecified limb Occurrence False Congenital Inferred relationship Some
Cranial hydromeningocele Occurrence False Congenital Inferred relationship Some 3
Phocomelia of unspecified limb Occurrence False Congenital Inferred relationship Some
Congenital amputation of unspecified limb Occurrence False Congenital Inferred relationship Some
Longitudinal reduction deformity of unspecified limb Occurrence False Congenital Inferred relationship Some
Other specified reduction deformities of unspecified limb Occurrence False Congenital Inferred relationship Some
Congenital abnormality of cardiac ventricle Occurrence True Congenital Inferred relationship Some 1
Brachymelia NOS Occurrence False Congenital Inferred relationship Some
Other reduction deformity of unspecified limb NOS Occurrence False Congenital Inferred relationship Some
Other upper limb and shoulder anomaly Occurrence False Congenital Inferred relationship Some
Upper limb anomaly, unspecified Occurrence False Congenital Inferred relationship Some
Other failure of differentiation of soft tissue of arm Occurrence False Congenital Inferred relationship Some
Other failure of differentiation, skeletal tissues of arm Occurrence False Congenital Inferred relationship Some
Congenital spade-like hand Occurrence True Congenital Inferred relationship Some 1
Congenital bowing of femur Occurrence True Congenital Inferred relationship Some 1
Other carpal synostosis Occurrence False Congenital Inferred relationship Some
Rhinocephaly Occurrence True Congenital Inferred relationship Some 1
Rhinocephaly Occurrence True Congenital Inferred relationship Some 2
Other failure of differentiation skeletal tissues of arm NOS Occurrence False Congenital Inferred relationship Some
Other duplication of limb Occurrence False Congenital Inferred relationship Some
Duplication of limb NOS Occurrence False Congenital Inferred relationship Some
Other overgrowth of upper limb Occurrence False Congenital Inferred relationship Some
Other overgrowth of limb NOS Occurrence False Congenital Inferred relationship Some
Other undergrowth of limb Occurrence False Congenital Inferred relationship Some
Other undergrowth of limb NOS Occurrence False Congenital Inferred relationship Some
Other congenital anomalies of fingers Occurrence False Congenital Inferred relationship Some
Brachydactyly of fingers, unspecified Occurrence False Congenital Inferred relationship Some
Camptodactyly-other or multiple Occurrence False Congenital Inferred relationship Some
Other anomaly of fingers NOS Occurrence False Congenital Inferred relationship Some
Other congenital anomalies of hand Occurrence False Congenital Inferred relationship Some
Other congenital anomalies of wrist Occurrence False Congenital Inferred relationship Some
Other congenital anomalies of forearm Occurrence False Congenital Inferred relationship Some
Other congenital anomaly forearm NOS Occurrence False Congenital Inferred relationship Some
Other congenital anomalies of whole arm Occurrence False Congenital Inferred relationship Some
Other upper limb and shoulder anomaly OS Occurrence False Congenital Inferred relationship Some
Other upper limb and shoulder anomaly NOS Occurrence False Congenital Inferred relationship Some
Upper limb or shoulder anomaly NOS Occurrence False Congenital Inferred relationship Some
Other lower limb and pelvic girdle anomalies Occurrence False Congenital Inferred relationship Some
Lower limb anomaly, unspecified Occurrence False Congenital Inferred relationship Some
Other congenital hip joint deformity Occurrence False Congenital Inferred relationship Some
Other congenital hip joint deformity NOS Occurrence False Congenital Inferred relationship Some
Congenital knee joint deformity NOS Occurrence False Congenital Inferred relationship Some

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Reference Sets

Qualifier value foundation reference set

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