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88154004: Ring chromosome 18 syndrome (disorder)

Status: current, Defined. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
146144014 Ring chromosome 18 syndrome en Synonym Active Case insensitive SNOMED CT core
830778014 Ring chromosome 18 syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4212348011 An autosomal anomaly with characteristics of variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. en Definition Active Case sensitive SNOMED CT core
4212349015 An autosomal anomaly with characteristics of variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioural characteristics. en Definition Active Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ring chromosome 18 syndrome Is a Ring chromosome true Inferred relationship Some
Ring chromosome 18 syndrome Associated morphology Ring chromosome true Inferred relationship Some 1
Ring chromosome 18 syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Ring chromosome 18 syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Ring chromosome 18 syndrome Associated morphology Congenital anomaly false Inferred relationship Some 1
Ring chromosome 18 syndrome Is a Anomaly of chromosome pair 18 true Inferred relationship Some
Ring chromosome 18 syndrome Is a Chromosome replaced with ring or dicentric false Inferred relationship Some
Ring chromosome 18 syndrome Finding site Chromosome pair 18 false Inferred relationship Some 1
Ring chromosome 18 syndrome Associated morphology Congenital anomaly false Inferred relationship Some
Ring chromosome 18 syndrome Occurrence Congenital true Inferred relationship Some 1
Ring chromosome 18 syndrome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
Ring chromosome 18 syndrome Finding site Chromosome pair 18 true Inferred relationship Some 1
Ring chromosome 18 syndrome Associated morphology Ring chromosome false Inferred relationship Some 2
Ring chromosome 18 syndrome Finding site Chromosome pair 18 false Inferred relationship Some 1
Ring chromosome 18 syndrome Finding site Sex chromosome false Inferred relationship Some
Ring chromosome 18 syndrome Occurrence Congenital false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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