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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
Oculootodental syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oculootodental syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Oculootodental syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 4
Oculootodental syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 2
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Globodontia Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Duane's syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Duane's syndrome, type 3 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Duane anomaly, myopathy, scoliosis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Duane's syndrome of right eye Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Duane's syndrome, type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Duane's syndrome, type 2 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Duane's syndrome of bilateral eyes Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Duane's syndrome of left eye Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Duane syndrome with vertical deviation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Isolated bilateral hemispheric cerebellar hypoplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Kostmann syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Absent radius, anogenital anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Absent radius, anogenital anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Absent radius, anogenital anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Pilodental dysplasia, refractive errors syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Pilodental dysplasia, refractive errors syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 4
Pilodental dysplasia, refractive errors syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Pilodental dysplasia, refractive errors syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Pilodental dysplasia, refractive errors syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Polymicrogyria with optic nerve hypoplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Polymicrogyria with optic nerve hypoplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
1q21.1 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
1q21.1 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hidrotic ectodermal dysplasia Christianson Fourie type Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Hidrotic ectodermal dysplasia Christianson Fourie type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hidrotic ectodermal dysplasia Christianson Fourie type Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Hidrotic ectodermal dysplasia Christianson Fourie type Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Congenital muscular dystrophy due to lamin A/C mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Parietal foramina with clavicular hypoplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Parietal foramina with clavicular hypoplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Parietal foramina with clavicular hypoplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Ptosis and vocal cord paralysis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Ptosis and vocal cord paralysis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Ptosis and vocal cord paralysis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
14q11.2 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
14q11.2 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Localized congenital skull defect Occurrence True Congenital Inferred relationship Existential restriction modifier 1
15q11.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
15q11.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Digital extensor muscle aplasia with polyneuropathy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Digital extensor muscle aplasia with polyneuropathy Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Axial spondylometaphyseal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Teebi Shaltout syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Teebi Shaltout syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Teebi Shaltout syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Congenital muscular dystrophy with integrin alpha-7 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant multiple pterygium syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ectodermal dysplasia syndactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Ectodermal dysplasia syndactyly syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 5
Ectodermal dysplasia syndactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Ectodermal dysplasia syndactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Ectodermal dysplasia syndactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ptosis and vocal cord paralysis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Pseudoleprechaunism syndrome Patterson type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Severe neonatal onset encephalopathy with microcephaly Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Duane syndrome with vertical deviation Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Pseudomonas pyocyaneus congenital infection Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Keutel syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Chondrodystrophy malacia Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Chondrodystrophy malacia Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Hypoplastic chondrodystrophy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Clutton's joints Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hyperplastic chondrodystrophy Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Keutel syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Late congenital syphilitic polyneuropathy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital hypertrophic pyloric stenosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
14q22q23 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
14q22q23 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
14q22q23 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
14q22q23 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Ogden syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Solitary arterial trunk Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Keutel syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Jawad syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Jawad syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Jawad syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Keutel syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Solute carrier family 35 member A2 congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Papular epidermal nevi with skyline basal cell layers syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Papular epidermal nevi with skyline basal cell layers syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 4
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1

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