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39220001: Chromosome pair 16 (cell structure)

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
65781018 Chromosome pair 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1202987018 Chromosome pair 16 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
65781018 Chromosome pair 16 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
65781018 Chromosome pair 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
775633014 Chromosome pair 16 (body structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1202987018 Chromosome pair 16 (cell structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1202987018 Chromosome pair 16 (cell structure) 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
Chromosome pair 16 (cell structure) Is a Chromosome true Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome pair 16 (cell structure) partie de Nucleus false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
16q partial monosomy syndrome Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
16q partial trisomy syndrome Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 16 Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 16 syndrome Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
16p partial trisomy syndrome Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 16 Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
16p partial trisomy syndrome Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 16 syndrome Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
16q partial trisomy syndrome Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
16q partial monosomy syndrome Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome 16p11.2 deletion syndrome (disorder) Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
16q partial monosomy syndrome Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
16q partial trisomy syndrome Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 16 syndrome Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
16p partial trisomy syndrome Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 16 Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
16q partial monosomy syndrome Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
16p11.2p12.2 microdeletion syndrome Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
16p11.2p12.2 microdeletion syndrome Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
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. Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of chromosome 16 (disorder) Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of short arm of chromosome 16 (disorder) Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of short arm of chromosome 16 (disorder) Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Partial trisomy of chromosome 16 Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
16p13.3 microduplication syndrome Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal 16p11.2 microdeletion syndrome Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal 16p11.2 microdeletion syndrome Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 5
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 6
Ring chromosome 16 syndrome Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (including high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported. Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 16 syndrome Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 16 syndrome Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal 16p11.2 microduplication syndrome (disorder) Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
16p12.2 microdeletion syndrome Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
16p12.2 microdeletion syndrome Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
16q24.1 microdeletion syndrome (disorder) Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
16q24.1 microdeletion syndrome (disorder) Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Maternal uniparental disomy of chromosome 16 Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of long arm of chromosome 16 Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of long arm of chromosome 16 Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of long arm of chromosome 16 Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of long arm of chromosome 16 (disorder) Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 16 (disorder) Finding site False Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial deletion of long arm of chromosome 16 Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosome 16p11.2 deletion syndrome (disorder) Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Duplication of part of short arm of chromosome 16 Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal 16p11.2 microduplication syndrome (disorder) Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
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. Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
16p13.3 microduplication syndrome Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
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. Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Duplication of part of long arm of chromosome 16 (disorder) Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (including high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported. Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
16p13.2 microdeletion syndrome Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
16p12.1p12.3 triplication syndrome Finding site True Chromosome pair 16 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2

This concept is not in any reference sets

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