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 syndrome\8q13 microdeletion syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\8q13 microdeletion syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\8q13 microdeletion syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\8q13 microdeletion syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\8q13 microdeletion syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\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 chromosomal disease\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 chromosomal disease\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\8q13 microdeletion syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\8q13 microdeletion syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\8q13 microdeletion syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\8q13 microdeletion syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\8q13 microdeletion syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\8q13 microdeletion syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\8q13 microdeletion syndrome
\Disease\Congenital disease\Congenital chromosomal disease\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 chromosomal disease\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 syndrome\8q13 microdeletion syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\8q13 microdeletion syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\8q13 microdeletion syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\8q13 microdeletion syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3431148016 8q13 microdeletion syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3431149012 8q13 microdeletion syndrome en Synonym Active Case insensitive SNOMED CT core

3431150012 Mesomelia synostoses syndrome Verloes David Pfeiffer type en Synonym Active Initial character case insensitive SNOMED CT core

3431151011 Mesomelic dysplasia with acral synostoses Verloes David Pfeiffer type en Synonym Active Initial character case insensitive SNOMED CT core

3431152016 Monosomy 8q13 en Synonym Active Case insensitive SNOMED CT core

3431153014 Verloes David syndrome en Synonym Active Case sensitive SNOMED CT core

3431154015 A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome. The characteristics of this syndrome are progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect and ureteral anomalies. To date 5 unrelated patients have been reported, including one family with multiple affected persons. This syndrome is due to a non-recurrent microdeletion in 8q13. All patients have a deletion of two contiguous genes: SULF1 and SLCO5A1. Transmitted as an autosomal dominant trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3431148016	8q13 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3431149012	8q13 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3431150012	Mesomelia synostoses syndrome Verloes David Pfeiffer type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3431151011	Mesomelic dysplasia with acral synostoses Verloes David Pfeiffer type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3431152016	Monosomy 8q13	en	Synonym	Active	Case insensitive	SNOMED CT core
3431153014	Verloes David syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3431154015	A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome. The characteristics of this syndrome are progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect and ureteral anomalies. To date 5 unrelated patients have been reported, including one family with multiple affected persons. This syndrome is due to a non-recurrent microdeletion in 8q13. All patients have a deletion of two contiguous genes: SULF1 and SLCO5A1. Transmitted as an autosomal dominant trait.	en	Definition	Active	Case sensitive	SNOMED CT core