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733473000: 16p13.3 microduplication syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3499509012 Distal trisomy 16p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3499510019 Distal duplication 16p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3499511015 16p13.3 microduplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3499512010 16p13.3 microduplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5403803010 16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403804016 16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterised by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499509012 Distal trisomy 16p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3499510019 Distal duplication 16p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3499511015 16p13.3 microduplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3499512010 16p13.3 microduplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3500013012 A rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which includes: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (up slanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403803010 16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403804016 16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterised by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3455461001000116 Mikroduplikationssyndrom 16p13.3 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
909161000172111 syndrome de microduplication 16p13.3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
944961000172115 dup(16)(p13.3) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
909161000172111 syndrome de microduplication 16p13.3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
944961000172115 dup(16)(p13.3) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3455461001000116 Mikroduplikationssyndrom 16p13.3 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
16p13.3 microduplication syndrome Is a 16p partial trisomy syndrome false Inferred relationship Existential restriction modifier (core metadata concept)
16p13.3 microduplication syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
16p13.3 microduplication syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
16p13.3 microduplication syndrome Finding site Chromosome pair 16 (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
16p13.3 microduplication syndrome Is a Duplication of part of short arm of chromosome 16 true Inferred relationship Existential restriction modifier (core metadata concept)
16p13.3 microduplication syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
16p13.3 microduplication syndrome Finding site Short arm of chromosome true Inferred relationship Existential restriction modifier (core metadata concept) 1
16p13.3 microduplication syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
16p13.3 microduplication syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
16p13.3 microduplication syndrome Finding site Chromosome pair 16 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
16p13.3 microduplication syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 2
16p13.3 microduplication syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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