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770595006: Ring chromosome 12 syndrome (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3701490011 Ring chromosome 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3701491010 Ring chromosome 12 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3701492015 Ring chromosome 12 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404826010 Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (including epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404827018 Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterised by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (including epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3701490011 Ring chromosome 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3701491010 Ring chromosome 12 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3701492015 Ring chromosome 12 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3701256017 A rare chromosomal anomaly syndrome with a highly variable phenotype and principle characteristics of postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (including epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (for example pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, cafe-au-lait spots and epilepsy have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404826010 Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (including epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404827018 Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterised by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (including epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3392191001000111 Ringchromosom-12-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
931611000172110 chromosome 12 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
973281000172118 syndrome du chromosome 12 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
931611000172110 chromosome 12 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
973281000172118 syndrome du chromosome 12 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3392191001000111 Ringchromosom-12-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 12 syndrome Is a Chromosome replaced with ring or dicentric false Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 12 syndrome Associated morphology Ring chromosome true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 12 syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 12 syndrome Is a Anomaly of chromosome pair 12 true Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 12 syndrome Finding site Chromosome pair 12 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 12 syndrome Is a Ring chromosome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 12 syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 12 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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