724147004: 8q13 microdeletion syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\8q13 microdeletion syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\8q13 microdeletion syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\8q13 microdeletion syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\8q13 microdeletion syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\8q13 microdeletion syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\8q13 microdeletion syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\8q13 microdeletion syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\8q13 microdeletion syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\8q13 microdeletion syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 8\8q partial monosomy syndrome\8q13 microdeletion syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 8\Deletion of part of chromosome 8\8q partial monosomy syndrome\8q13 microdeletion syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\8q13 microdeletion syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\8q13 microdeletion syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\8q13 microdeletion syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\8q13 microdeletion syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\8q13 microdeletion syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\8q13 microdeletion syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\8q13 microdeletion syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\8q13 microdeletion syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 8\8q partial monosomy syndrome\8q13 microdeletion syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 8\Deletion of part of chromosome 8\8q partial monosomy syndrome\8q13 microdeletion syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\8q13 microdeletion syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\8q13 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\8q13 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\8q13 microdeletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3431148016 8q13 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3431149012 8q13 microdeletion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3431150012 Mesomelia synostoses syndrome Verloes David Pfeiffer type en Synonym Active Only initial character case insensitive SNOMED CT core module
3431151011 Mesomelic dysplasia with acral synostoses Verloes David Pfeiffer type en Synonym Active Only initial character case insensitive SNOMED CT core module
3431152016 Monosomy 8q13 en Synonym Active Entire term case insensitive SNOMED CT core module
3431153014 Verloes David syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
8q13 microdeletion syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
8q13 microdeletion syndrome	Is a	8q partial monosomy syndrome	true	Inferred relationship	Existential restriction modifier
8q13 microdeletion syndrome	Is a	Acromesomelic dysplasia group	true	Inferred relationship	Existential restriction modifier
8q13 microdeletion syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
8q13 microdeletion syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
8q13 microdeletion syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
8q13 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
8q13 microdeletion syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	3
8q13 microdeletion syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
8q13 microdeletion syndrome	Finding site	Chromosome pair 8	false	Inferred relationship	Existential restriction modifier	4
8q13 microdeletion syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
8q13 microdeletion syndrome	Finding site	Chromosome pair 8	false	Inferred relationship	Existential restriction modifier	3
8q13 microdeletion syndrome	Associated morphology	Partial monosomy	false	Inferred relationship	Existential restriction modifier	3
8q13 microdeletion syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier	4
8q13 microdeletion syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	5
8q13 microdeletion syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	5
8q13 microdeletion syndrome	Finding site	Chromosome pair 8	true	Inferred relationship	Existential restriction modifier	2
8q13 microdeletion syndrome	Associated morphology	Deletion of long arm	true	Inferred relationship	Existential restriction modifier	2
8q13 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
8q13 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
8q13 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
8q13 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
8q13 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
8q13 microdeletion syndrome	Finding site	Chromosome pair 8	true	Inferred relationship	Existential restriction modifier	1
8q13 microdeletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	1
8q13 microdeletion syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	3
8q13 microdeletion syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

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
3431148016	8q13 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3431149012	8q13 microdeletion syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3431150012	Mesomelia synostoses syndrome Verloes David Pfeiffer type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3431151011	Mesomelic dysplasia with acral synostoses Verloes David Pfeiffer type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3431152016	Monosomy 8q13	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3431153014	Verloes David syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module