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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
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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
5q22.2 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
A rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Occurrence True Congenital Inferred relationship Some 2
A rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Occurrence True Congenital Inferred relationship Some 3
Port-wine stain in proteus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
7p12-p14 deletion syndrome Occurrence True Congenital Inferred relationship Some 1
7p12-p14 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
7p21.1 deletion syndrome Occurrence True Congenital Inferred relationship Some 1
7p21.1 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
9p24.3 deletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
9p24.3 deletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
9q34 deletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
9q34 deletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of left renal artery Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of right renal artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital anomaly of renal arteries Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital anomaly of renal arteries Occurrence True Congenital Inferred relationship Some 2
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. Occurrence True Congenital Inferred relationship Some 1
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. Occurrence True Congenital Inferred relationship Some 2
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. Occurrence True Congenital Inferred relationship Some 3
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. Occurrence True Congenital Inferred relationship Some 4
Brachymetatarsia of first metatarsal Occurrence True Congenital Inferred relationship Some 1
Brachymetatarsia of fourth metatarsal Occurrence True Congenital Inferred relationship Some 1
Congenital absence of cystic duct Occurrence True Congenital Inferred relationship Some 1
12q24.31-q24.32 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. Occurrence True Congenital Inferred relationship Some 1
A rare chromosomal anomaly characterised by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal. Occurrence True Congenital Inferred relationship Some 2
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Occurrence True Congenital Inferred relationship Some 3
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Occurrence True Congenital Inferred relationship Some 4
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Occurrence True Congenital Inferred relationship Some 5
Congenital anomalous tracheobronchial branching (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomalous arrangement of pancreatobiliary duct (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomalous arrangement of pancreatobiliary duct (disorder) Occurrence True Congenital Inferred relationship Some 2
Bicuspid aortic valve-associated aortopathy (disorder) Occurrence True Congenital Inferred relationship Some 2
A rare genetic disorder characterised by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit. Occurrence True Congenital Inferred relationship Some 1
Congenital complete absence of bilateral lower limbs Occurrence True Congenital Inferred relationship Some 1
Congenital complete absence of bilateral lower limbs Occurrence True Congenital Inferred relationship Some 2
Congenital complete absence of bilateral upper limbs (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital complete absence of bilateral upper limbs (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital atresia of bilateral anterior nares (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital atresia of bilateral anterior nares (disorder) Occurrence True Congenital Inferred relationship Some 2
polykystose hépatique autosomique dominante Occurrence False Congenital Inferred relationship Some 1
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Occurrence True Congenital Inferred relationship Some 2
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Occurrence False Congenital Inferred relationship Some 3
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Occurrence False Congenital Inferred relationship Some 4
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Occurrence True Congenital Inferred relationship Some 5
Autosomal recessive epidermolytic ichthyosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive Robinow syndrome Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive Robinow syndrome Occurrence True Congenital Inferred relationship Some 3
Autosomal recessive Robinow syndrome Occurrence False Congenital Inferred relationship Some 4
Autosomal recessive Robinow syndrome Occurrence True Congenital Inferred relationship Some 5
Bilateral frontal polymicrogyria Occurrence True Congenital Inferred relationship Some 1
Bilateral frontoparietal polymicrogyria is a sub-type of polymicrogyria. It is a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus. Occurrence True Congenital Inferred relationship Some 1
Bilateral generalized polymicrogyria (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral parasagittal parieto-occipital polymicrogyria Occurrence True Congenital Inferred relationship Some 1
Bilateral frontoparietal polymicrogyria is a sub-type of polymicrogyria. It is a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus. Occurrence True Congenital Inferred relationship Some 2
Bilateral parasagittal parieto-occipital polymicrogyria Occurrence True Congenital Inferred relationship Some 2
A rare genetic disorder characterised by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit. Occurrence True Congenital Inferred relationship Some 2
46,XY disorder of sex development due to environmental chemical exposure (disorder) Occurrence True Congenital Inferred relationship Some 1
46,XX disorder of sex development Occurrence True Congenital Inferred relationship Some 1
Bilateral humeroradial synostosis Occurrence True Congenital Inferred relationship Some 1
Bilateral humeroradial synostosis Occurrence True Congenital Inferred relationship Some 2
Bilateral humeroradial synostosis Occurrence True Congenital Inferred relationship Some 3
Bilateral humeroradial synostosis Occurrence True Congenital Inferred relationship Some 4
Epiblepharon of bilateral eyelids (disorder) Occurrence True Congenital Inferred relationship Some 1
Epiblepharon of bilateral eyelids (disorder) Occurrence True Congenital Inferred relationship Some 2
Bilateral euryblepharon Occurrence True Congenital Inferred relationship Some 1
Bilateral euryblepharon Occurrence True Congenital Inferred relationship Some 2
Holoprosencephaly co-occurrent with congenital nasal pyriform aperture stenosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Coralliform cataract (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital hallux valgus Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital hallux valgus Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital vertical talus Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital vertical talus Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital vertical talus Occurrence True Congenital Inferred relationship Some 3
Bilateral congenital vertical talus Occurrence True Congenital Inferred relationship Some 4
Between 71% and 99% stenosis according to the Cotton-Myer scale. Occurrence True Congenital Inferred relationship Some 1
Bilateral distal interphalangeal joint symphalangism Occurrence True Congenital Inferred relationship Some 1
Congenital symblepharon of bilateral conjunctivae (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital symblepharon of bilateral conjunctivae (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital symblepharon of bilateral conjunctivae (disorder) Occurrence True Congenital Inferred relationship Some 3
Congenital symblepharon of bilateral conjunctivae (disorder) Occurrence True Congenital Inferred relationship Some 4
100% stenosis according to the Cotton-Myer scale. Occurrence True Congenital Inferred relationship Some 1
Congenital duplication of the fifth digit, fully developed with bone and neural tissue. Occurrence True Congenital Inferred relationship Some 1
Congenital duplication of the fifth digit, fully developed with bone and neural tissue. Occurrence True Congenital Inferred relationship Some 2
Congenital duplication of the fifth digit, rudimentary, non-functioning or soft tissue. Occurrence True Congenital Inferred relationship Some 1
Congenital duplication of the fifth digit, rudimentary, non-functioning or soft tissue. Occurrence True Congenital Inferred relationship Some 2
Bilateral postaxial polydactyly of toes Occurrence True Congenital Inferred relationship Some 1
Bilateral postaxial polydactyly of toes Occurrence True Congenital Inferred relationship Some 2
Bilateral polydactyly of thumb Occurrence True Congenital Inferred relationship Some 1
Bilateral polydactyly of thumb Occurrence True Congenital Inferred relationship Some 2
Bilateral macrodactyly of toes Occurrence True Congenital Inferred relationship Some 1
Bilateral macrodactyly of toes Occurrence True Congenital Inferred relationship Some 2
Persistent hyperplastic primary vitreous of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 1
Persistent hyperplastic primary vitreous of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 2
Polydactyly of bilateral triphalangeal thumbs (disorder) Occurrence True Congenital Inferred relationship Some 1
Polydactyly of bilateral triphalangeal thumbs (disorder) Occurrence True Congenital Inferred relationship Some 2
Bilateral partial cryptophthalmos Occurrence True Congenital Inferred relationship Some 1
Bilateral partial cryptophthalmos Occurrence True Congenital Inferred relationship Some 2
Macrodactyly of bilateral hands Occurrence True Congenital Inferred relationship Some 1
Macrodactyly of bilateral hands Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital metatarsus valgus Occurrence True Congenital Inferred relationship Some 1

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