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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
Progeroid syndrome Petty type Occurrence True Congenital Inferred relationship Some 1
Microcephalic primordial dwarfism Dauber type Occurrence True Congenital Inferred relationship Some 1
Microcephalic primordial dwarfism Dauber type Occurrence True Congenital Inferred relationship Some 2
Lissencephaly type 3 metacarpal bone dysplasia syndrome Occurrence True Congenital Inferred relationship Some 2
Maternal uniparental disomy of chromosome 13 Occurrence True Congenital Inferred relationship Some 1
Lissencephaly type 1 due to doublecortin gene mutation Occurrence True Congenital Inferred relationship Some 1
Isolated lissencephaly type 1 without known genetic defect Occurrence True Congenital Inferred relationship Some 1
Microlissencephaly micromelia syndrome Occurrence True Congenital Inferred relationship Some 3
Craniotelencephalic dysplasia Occurrence True Congenital Inferred relationship Some 1
Lower limb malformation hypospadias syndrome Occurrence True Congenital Inferred relationship Some 1
Lower limb malformation hypospadias syndrome Occurrence True Congenital Inferred relationship Some 2
Macrodactyly of thumb Occurrence True Congenital Inferred relationship Some 1
Distal monosomy 19p13.3 Occurrence True Congenital Inferred relationship Some 1
Distal monosomy 19p13.3 Occurrence True Congenital Inferred relationship Some 2
Crossed polysyndactyly Occurrence True Congenital Inferred relationship Some 1
Crossed polysyndactyly Occurrence True Congenital Inferred relationship Some 2
Choanal atresia with radial ray hypoplasia Occurrence True Congenital Inferred relationship Some 1
Lissencephaly Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of part of upper limb Occurrence True Congenital Inferred relationship Some 1
Robin sequence and oligodactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Robin sequence and oligodactyly syndrome Occurrence True Congenital Inferred relationship Some 2
Miller Dieker syndrome Occurrence True Congenital Inferred relationship Some 1
10q22.3q23.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
10q22.3q23.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome Occurrence True Congenital Inferred relationship Some 1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome Occurrence True Congenital Inferred relationship Some 3
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome Occurrence True Congenital Inferred relationship Some 2
Silver disease Occurrence False Congenital Inferred relationship Some 1
Athyrotic hypothyroidism sequence Occurrence True Congenital Inferred relationship Some 1
X-linked cerebral, cerebellar, coloboma syndrome Occurrence True Congenital Inferred relationship Some 1
X-linked cerebral, cerebellar, coloboma syndrome Occurrence True Congenital Inferred relationship Some 2
X-linked cerebral, cerebellar, coloboma syndrome Occurrence True Congenital Inferred relationship Some 3
19q13.11 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation Occurrence True Congenital Inferred relationship Some 1
19p13.12 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Microcephalus, brain defect, spasticity, hypernatraemia syndrome Occurrence True Congenital Inferred relationship Some 1
Chuvash erythrocytosis Occurrence True Congenital Inferred relationship Some 2
Impacted incisors Occurrence False Congenital Inferred relationship Some
Impacted premolars Occurrence False Congenital Inferred relationship Some
Impacted molars Occurrence False Congenital Inferred relationship Some
Embedded teeth Occurrence False Congenital Inferred relationship Some
Traction oesophageal diverticulum Occurrence False Congenital Inferred relationship Some
Acquired oesophagocoele Occurrence False Congenital Inferred relationship Some
Umbilical hernia with gangrene Occurrence False Congenital Inferred relationship Some
Omphalocele with gangrene Occurrence False Congenital Inferred relationship Some
Paraumbilical hernia with obstruction Occurrence False Congenital Inferred relationship Some
Omphalocele - irreducible Occurrence False Congenital Inferred relationship Some
Paraumbilical hernia - irreducible Occurrence False Congenital Inferred relationship Some
Congenital cataract of left eye Occurrence True Congenital Inferred relationship Some 1
Simple omphalocele Occurrence False Congenital Inferred relationship Some
Bilateral Duane's syndrome of eyes Occurrence True Congenital Inferred relationship Some 1
Bilateral Duane's syndrome of eyes Occurrence True Congenital Inferred relationship Some 2
Simple paraumbilical hernia Occurrence False Congenital Inferred relationship Some
Congenital cataract of right eye Occurrence True Congenital Inferred relationship Some 1
Congenital ptosis of left upper eyelid Occurrence True Congenital Inferred relationship Some 1
Duane's syndrome of right eye Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital ptosis of upper eyelids Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital ptosis of upper eyelids Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital cataract of eyes Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital cataract of eyes Occurrence True Congenital Inferred relationship Some 2
Congenital ptosis of right upper eyelid Occurrence True Congenital Inferred relationship Some 1
Duane's syndrome of left eye Occurrence True Congenital Inferred relationship Some 1
Microcephalus, brain defect, spasticity, hypernatraemia syndrome Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 58 Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 58 Occurrence False Congenital Inferred relationship Some 2
Benign Samaritan congenital myopathy Occurrence True Congenital Inferred relationship Some 1
5p13 microduplication syndrome Occurrence True Congenital Inferred relationship Some 2
5p13 microduplication syndrome Occurrence True Congenital Inferred relationship Some 3
5p13 microduplication syndrome Occurrence True Congenital Inferred relationship Some 1
Microcephaly, thin corpus callosum, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Microcephaly, thin corpus callosum, intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 2
Intellectual disability, seizures, macrocephaly, obesity syndrome Occurrence True Congenital Inferred relationship Some 3
Intellectual disability, seizures, macrocephaly, obesity syndrome Occurrence True Congenital Inferred relationship Some 2
Intellectual disability, seizures, macrocephaly, obesity syndrome Occurrence True Congenital Inferred relationship Some 1
Hereditary inclusion body myopathy type 4 Occurrence True Congenital Inferred relationship Some 1
2p21 microdeletion syndrome without cystinuria Occurrence True Congenital Inferred relationship Some 1
2p21 microdeletion syndrome without cystinuria Occurrence True Congenital Inferred relationship Some 2
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome Occurrence True Congenital Inferred relationship Some 3
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome Occurrence True Congenital Inferred relationship Some 2
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Some 2
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Some 3
Tall stature, scoliosis, macrodactyly of great toe syndrome Occurrence True Congenital Inferred relationship Some 2
Tall stature, scoliosis, macrodactyly of great toe syndrome Occurrence True Congenital Inferred relationship Some 1
Sinoatrial node dysfunction and deafness Occurrence True Congenital Inferred relationship Some 1
Sinoatrial node dysfunction and deafness Occurrence True Congenital Inferred relationship Some 2
2p13.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 3
2p13.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
2p13.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 70 Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 70 Occurrence False Congenital Inferred relationship Some 2
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Occurrence False Congenital Inferred relationship Some 1
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Occurrence False Congenital Inferred relationship Some 2
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Occurrence False Congenital Inferred relationship Some 3
11p15.4 microduplication syndrome Occurrence True Congenital Inferred relationship Some 1
11p15.4 microduplication syndrome Occurrence True Congenital Inferred relationship Some 2
11p15.4 microduplication syndrome Occurrence True Congenital Inferred relationship Some 3
3q27.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
3q27.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
3q27.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 3

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Reference Sets

Qualifier value foundation reference set

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