733519008: 17q12 microdeletion syndrome (disorder)

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

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 17 (disorder)\Deletion of part of long arm of chromosome 17 (disorder)\17q12 microdeletion syndrome

\Anomaly of chromosome pair 17\Deletion of part of chromosome 17 (disorder)\Deletion of part of long arm of chromosome 17 (disorder)\17q12 microdeletion syndrome

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\17q12 microdeletion syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 17 (disorder)\Deletion of part of long arm of chromosome 17 (disorder)\17q12 microdeletion syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Deletion of part of chromosome 17 (disorder)\Deletion of part of long arm of chromosome 17 (disorder)\17q12 microdeletion syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\17q12 microdeletion syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3499595011 17q12 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3499596012 Monosomy 17q12 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3499597015 17q12 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3500024014 A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17. The disease is characterized by renal cystic disease, maturity onset diabetes of the young type 5 and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcemia has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3500025010 A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17. The disease is characterised by renal cystic disease, maturity onset diabetes of the young type 5 and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4012911000052114 17q12-mikrodeletionssyndromet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
17q12 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
17q12 microdeletion syndrome	Finding site	Chromosome pair 17	true	Inferred relationship	Some	2
17q12 microdeletion syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
17q12 microdeletion syndrome	Finding site	Chromosome pair 17	false	Inferred relationship	Some	3
17q12 microdeletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
17q12 microdeletion syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	3
17q12 microdeletion syndrome	Is a	Deletion of part of long arm of chromosome 17 (disorder)	true	Inferred relationship	Some
17q12 microdeletion syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
17q12 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
17q12 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
17q12 microdeletion syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
17q12 microdeletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
17q12 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

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
3499595011	17q12 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3499596012	Monosomy 17q12	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3499597015	17q12 microdeletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3500024014	A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17. The disease is characterized by renal cystic disease, maturity onset diabetes of the young type 5 and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcemia has also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3500025010	A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17. The disease is characterised by renal cystic disease, maturity onset diabetes of the young type 5 and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia has also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4012911000052114	17q12-mikrodeletionssyndromet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)