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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
Congenital abnormality of right lacrimal drainage system Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital abnormality of bilateral lacrimal drainage systems Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital abnormality of bilateral lacrimal drainage systems Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital malformation of blood vessel of left orbit proper Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital malformation of blood vessel of right orbit proper Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital malformation of blood vessel of bilateral orbits proper Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Paraspadias Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Ring finger protein 13-related severe early-onset epileptic encephalopathy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Pancreatic agenesis, holoprosencephaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Pancreatic agenesis, holoprosencephaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Early-onset calcifying leukoencephalopathy, skeletal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Neonatal epileptic encephalopathy due to deficiency of glutaminase Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Congenital primary lymphedema of Gordon Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Primary desmosis coli Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Anterior maxillary protrusion, strabismus, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Syndromic congenital sodium diarrhea Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
1p35.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
1p35.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
1p35.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Polyglucosan body myopathy type 2 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Complex lethal osteochondrodysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mixed cystic lymphatic malformation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Spondyloepiphyseal dysplasia Stanescu type Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Kaposiform lymphangiomatosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Glucagon receptor-related hyperglucagonemia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
9q33.3q34.11 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
9q33.3q34.11 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
9q33.3q34.11 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
16p13.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
16p13.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Xq25 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Xq25 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Xq25 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
17q24.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
17q24.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
17q24.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
9q21.13 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
9q21.13 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
9q21.13 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Lethal brain and heart developmental defects syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Lethal brain and heart developmental defects syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Lethal brain and heart developmental defects syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
11q22.2q22.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
11q22.2q22.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
11q22.2q22.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
19p13.3 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
19p13.3 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
19p13.3 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
20q11.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
20q11.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
20q11.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
20q11.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
8q24.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
8q24.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
8q24.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
8q24.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to protein tyrosine phosphatase receptor type C deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Severe combined immunodeficiency due to coronin 1A deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
SIM bHLH transcription factor 1-related Prader-Willi-like syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
SIM bHLH transcription factor 1-related Prader-Willi-like syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
SIM bHLH transcription factor 1-related Prader-Willi-like syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
MAGE family member L2-related Prader-Willi-like syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
MAGE family member L2-related Prader-Willi-like syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
MAGE family member L2-related Prader-Willi-like syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Heme oxygenase-1 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital dysplasia of supratip of nose Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Duane retraction syndrome with congenital deafness Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Duane retraction syndrome with congenital deafness Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Duane retraction syndrome with congenital deafness Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Familial congenital nasolacrimal duct obstruction Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital peripapillary staphyloma Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital peripapillary staphyloma Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital peripapillary staphyloma Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Frontorhiny Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Frontorhiny Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Complete septate uterus Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Lethal acantholytic erosive disorder Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital deformity of lower limb Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital capsular cataract of left eye Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital capsular cataract of right eye Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital capsular cataract of bilateral eyes Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital capsular cataract of bilateral eyes Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital combined form cataract of left eye Occurrence True Congenital Inferred relationship Existential restriction modifier 1

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