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88154004: Ring chromosome 18 syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Chromosomal disorder (disorder)\Congenital chromosomal disease\...

\Ring chromosome\Ring chromosome 18 syndrome

\Anomaly of chromosome pair\Anomaly of chromosome pair 18\Ring chromosome 18 syndrome

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 18 syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Ring chromosome\Ring chromosome 18 syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 18\Ring chromosome 18 syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 18 syndrome

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

146144014 Ring chromosome 18 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

830778014 Ring chromosome 18 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

951851000172111 chromosome 18 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

953401000172110 syndrome du chromosome 18 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

900061000172117 ring 18 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

901001000172110 ringchromosoom 18 syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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	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
Ring chromosome 18 syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
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	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 (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ring chromosome 18 syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
146144014	Ring chromosome 18 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
830778014	Ring chromosome 18 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
951851000172111	chromosome 18 en anneau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
953401000172110	syndrome du chromosome 18 en anneau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
900061000172117	ring 18	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
901001000172110	ringchromosoom 18 syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)