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86997002: Ring chromosome 10 syndrome (disorder)


Status: current, 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
144281015 Ring chromosome 10 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
478051000241118 syndrome du chromosome 10 en anneau (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
829377015 Ring chromosome 10 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
931551000172110 chromosome 10 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
996931000172110 syndrome du chromosome 10 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
4212336013 An autosomal anomaly with characteristics of variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly and dysmorphic features. Congenital heart disease and genitourinary anomalies are reported in some cases. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ring chromosome 10 syndrome est un(e) (attribut) Ring chromosome true Inferred relationship Some
Ring chromosome 10 syndrome morphologie associée (attribut) Ring chromosome true Inferred relationship Some 1
Ring chromosome 10 syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ring chromosome 10 syndrome est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Ring chromosome 10 syndrome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Ring chromosome 10 syndrome est un(e) (attribut) anomalie du chromosome 10 (trouble) true Inferred relationship Some
Ring chromosome 10 syndrome est un(e) (attribut) Chromosome replaced with ring or dicentric false Inferred relationship Some
Ring chromosome 10 syndrome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some
Ring chromosome 10 syndrome localisation d'une constatation (attribut) Chromosome pair 10 (cell structure) false Inferred relationship Some 1
Ring chromosome 10 syndrome survenue (attribut) congénital true Inferred relationship Some 1
Ring chromosome 10 syndrome localisation d'une constatation (attribut) Chromosome pair 10 (cell structure) true Inferred relationship Some 1
Ring chromosome 10 syndrome morphologie associée (attribut) Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
Ring chromosome 10 syndrome localisation d'une constatation (attribut) Sex chromosome (cell structure) false Inferred relationship Some
Ring chromosome 10 syndrome survenue (attribut) congénital false Inferred relationship Some
Ring chromosome 10 syndrome morphologie associée (attribut) Ring chromosome false Inferred relationship Some 2
Ring chromosome 10 syndrome localisation d'une constatation (attribut) Chromosome pair 10 (cell structure) false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

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