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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital abnormality of right lacrimal drainage system (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of bilateral lacrimal drainage systems (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of bilateral lacrimal drainage systems (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital vascular malformation of left orbit proper Occurrence True Congenital Inferred relationship Some 1
Congenital malformation of blood vessel of right orbit proper (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital malformation of blood vessel of bilateral orbits proper (disorder) Occurrence True Congenital Inferred relationship Some 1
Paraspadias Occurrence True Congenital Inferred relationship Some 2
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Occurrence True Congenital Inferred relationship Some 2
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) Occurrence True Congenital Inferred relationship Some 1
Pancreatic agenesis, holoprosencephaly syndrome Occurrence True Congenital Inferred relationship Some 1
Pancreatic agenesis, holoprosencephaly syndrome Occurrence True Congenital Inferred relationship Some 2
Early-onset calcifying leucoencephalopathy, skeletal dysplasia Occurrence True Congenital Inferred relationship Some 2
Neonatal epileptic encephalopathy due to glutaminase deficiency Occurrence True Congenital Inferred relationship Some 3
Congenital primary lymphedema of Gordon (disorder) Occurrence True Congenital Inferred relationship Some 1
Primary desmosis coli (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) Occurrence True Congenital Inferred relationship Some 3
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) Occurrence True Congenital Inferred relationship Some 5
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Syndromic congenital sodium diarrhoea Occurrence True Congenital Inferred relationship Some 1
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
1p35.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
1p35.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
1p35.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 3
Polyglucosan body myopathy type 2 Occurrence True Congenital Inferred relationship Some 1
Complex lethal osteochondrodysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Mixed cystic lymphatic malformation Occurrence True Congenital Inferred relationship Some 1
Spondyloepiphyseal dysplasia Stanescu type Occurrence True Congenital Inferred relationship Some 2
Kaposiform lymphangiomatosis (disorder) Occurrence True Congenital Inferred relationship Some 1
PCNA-related progressive neurodegenerative photosensitivity syndrome Occurrence True Congenital Inferred relationship Some 1
PCNA-related progressive neurodegenerative photosensitivity syndrome Occurrence True Congenital Inferred relationship Some 4
Glucagon receptor-related hyperglucagonemia (disorder) Occurrence True Congenital Inferred relationship Some 1
9q33.3q34.11 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
9q33.3q34.11 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
9q33.3q34.11 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 3
16p13.2 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
16p13.2 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Xq25 microduplication syndrome Occurrence True Congenital Inferred relationship Some 1
Xq25 microduplication syndrome Occurrence True Congenital Inferred relationship Some 2
Xq25 microduplication syndrome Occurrence True Congenital Inferred relationship Some 3
17q24.2 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
17q24.2 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
17q24.2 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
9q21.13 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
9q21.13 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 3
9q21.13 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 4
Lethal brain and heart developmental defects syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Lethal brain and heart developmental defects syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Lethal brain and heart developmental defects syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
11q22.2q22.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
11q22.2q22.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
11q22.2q22.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 3
19p13.3 microduplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
19p13.3 microduplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
19p13.3 microduplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
20q11.2 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
20q11.2 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
20q11.2 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
20q11.2 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
8q24.3 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
8q24.3 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
8q24.3 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
8q24.3 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency Occurrence True Congenital Inferred relationship Some 1
Severe combined immunodeficiency due to CORO1A deficiency Occurrence True Congenital Inferred relationship Some 1
SIM1-related Prader-Willi-like syndrome Occurrence True Congenital Inferred relationship Some 1
SIM1-related Prader-Willi-like syndrome Occurrence True Congenital Inferred relationship Some 2
SIM1-related Prader-Willi-like syndrome Occurrence True Congenital Inferred relationship Some 3
MAGE family member L2-related Prader-Willi-like syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
MAGE family member L2-related Prader-Willi-like syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
MAGE family member L2-related Prader-Willi-like syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Heme oxygenase-1 deficiency (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital dysplasia of supratip of nose (disorder) Occurrence True Congenital Inferred relationship Some 1
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Duane retraction syndrome with congenital deafness Occurrence True Congenital Inferred relationship Some 1
Duane retraction syndrome with congenital deafness Occurrence True Congenital Inferred relationship Some 2
Duane retraction syndrome with congenital deafness Occurrence True Congenital Inferred relationship Some 3
Familial congenital nasolacrimal duct obstruction (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital peripapillary staphyloma Occurrence True Congenital Inferred relationship Some 1
Congenital peripapillary staphyloma Occurrence True Congenital Inferred relationship Some 2
Congenital peripapillary staphyloma Occurrence True Congenital Inferred relationship Some 3
Frontorhiny (disorder) Occurrence True Congenital Inferred relationship Some 1
Frontorhiny (disorder) Occurrence True Congenital Inferred relationship Some 2
Complete septate uterus (disorder) Occurrence True Congenital Inferred relationship Some 1
Lethal acantholytic erosive disorder Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of lower limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital capsular cataract of left eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Right congenital capsular cataract Occurrence True Congenital Inferred relationship Some 1
Congenital capsular cataract of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital capsular cataract of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital combined form cataract of left eye (disorder) Occurrence True Congenital Inferred relationship Some 1

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