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778043005: Ring chromosome 17 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
3737482017 Ring chromosome 17 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737483010 Ring chromosome 17 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737484016 Ring chromosome 17 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737485015 Ring 17 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737486019 A rare chromosomal anomaly syndrome resulting from partial deletion of chromosome 17. The disease has highly variable manifestations ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), cafe-au-lait spots, retinal flecks and minor facial dysmorphism depending on the presence or absence of the Miller-Dieker critical region. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3737482017 Ring chromosome 17 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737483010 Ring chromosome 17 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737484016 Ring chromosome 17 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737485015 Ring 17 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737486019 A rare chromosomal anomaly syndrome resulting from partial deletion of chromosome 17. The disease has highly variable manifestations ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), cafe-au-lait spots, retinal flecks and minor facial dysmorphism depending on the presence or absence of the Miller-Dieker critical region. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3410151001000110 Ringchromosom 17-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
896101000172110 syndrome du chromosome 17 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
959091000172113 chromosome 17 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
896101000172110 syndrome du chromosome 17 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
959091000172113 chromosome 17 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3410151001000110 Ringchromosom 17-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 17 syndrome Is a Anomaly of chromosome pair 17 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 17 syndrome Associated morphology Ring chromosome true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 17 syndrome Finding site Chromosome pair 17 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 17 syndrome Is a Chromosome replaced with ring or dicentric false Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 17 syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 17 syndrome Is a Ring chromosome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 17 syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 17 syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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