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765485000: Ring chromosome 2 syndrome (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3658949018 Ring chromosome 2 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3658950018 Ring chromosome 2 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3658951019 Ring chromosome 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404544010 Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (including microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404545011 Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterised by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (including microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3658949018 Ring chromosome 2 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3658950018 Ring chromosome 2 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3658951019 Ring chromosome 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3658952014 A rare chromosomal anomaly syndrome with highly variable phenotype. Principal characteristics are intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (including microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (for example kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (including cafe-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (for example genital hypoplasia, phimosis, cryptorchidism). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404544010 Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (including microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404545011 Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterised by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (including microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3416731001000119 Ringchromosom-2-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
876741000172115 chromosome 2 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
975751000172115 syndrome du chromosome 2 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
876741000172115 chromosome 2 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
975751000172115 syndrome du chromosome 2 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3416731001000119 Ringchromosom-2-Syndrom 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
Ring chromosome 2 syndrome Is a Anomaly of chromosome pair 2 true Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 2 syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 2 syndrome Is a Chromosome replaced with ring or dicentric false Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 2 syndrome Associated morphology Ring chromosome true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 2 syndrome Finding site Chromosome pair 2 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 2 syndrome Is a Ring chromosome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 2 syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 2 syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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