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1292992004: Component annotation with string value reference set (foundation metadata concept)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2023. Module: SNOMED CT model component

Descriptions:

Id Description Lang Type Status Case? Module
5276957018 Component annotation with string value reference set (foundation metadata concept) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT model component
5276958011 Component annotation with string value reference set en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT model component
5276957018 Component annotation with string value reference set (foundation metadata concept) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT model component
5276958011 Component annotation with string value reference set en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT model component

8429 members. Search Members:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Component annotation with string value reference set (foundation metadata concept) Is a Reference set true Inferred relationship Existential restriction modifier (core metadata concept)
Members languageDialectCode typeId value
10q22.3q23.3 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
10q22.3q23.3 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
11p15.4 microduplication syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
11p15.4 microduplication syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
11q22.2q22.3 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
11q22.2q22.3 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
12q14 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
12q14 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
12q15q21.1 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
12q15q21.1 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
14q11.2 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
14q11.2 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
14q12 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
14q12 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
14q32 duplication syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
14q32 duplication syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
15q11q13 microduplication syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
15q11q13 microduplication syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
15q14 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
15q14 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
16p11.2p12.2 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
16p11.2p12.2 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
16p12.1p12.3 triplication syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
16p12.1p12.3 triplication syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
16p13.2 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
16p13.2 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
16p13.3 microduplication syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
16p13.3 microduplication syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
16q24.1 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
16q24.1 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
17p11.2 microduplication syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
17p11.2 microduplication syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
17p13.3 microduplication syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
17p13.3 microduplication syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
17q12 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
17q12 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
17q21.31 microduplication syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
17q21.31 microduplication syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
17q23.1q23.2 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
17q23.1q23.2 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
17q24.2 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
17q24.2 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
19p13.13 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
19p13.13 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
19p13.3 microduplication syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
19p13.3 microduplication syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
1p31p32 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
1p31p32 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
1p35.2 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
1p35.2 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
1q41q42 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
1q41q42 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
1q44 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
1q44 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
2-methylbutyryl-coenzyme A dehydrogenase deficiency disease (disorder) Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
2-methylbutyryl-coenzyme A dehydrogenase deficiency disease (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
2-methylbutyryl-coenzyme A dehydrogenase deficiency disease (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
20p12.3 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
20p12.3 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
20q11.2 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
20q11.2 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptorchidism are often associated features. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptorchidism are often associated features. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
22q11.2 deletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
22q11.2 deletion syndrome (disorder) Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
22q11.2 deletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
2p13.2 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
2p13.2 microdeletion syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
2p15p16.1 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
2p15p16.1 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
2p21 microdeletion syndrome without cystinuria (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
2p21 microdeletion syndrome without cystinuria (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
2q23.1 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
2q23.1 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
2q23.1 microduplication syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
2q23.1 microduplication syndrome en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
2q24 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
2q24 microdeletion syndrome (disorder) en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. en Attributed to a particular organisation or group that contributes content to SNOMED CT. Inserm Orphanet

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