766050000: Distal monosomy 15q syndrome (disorder)

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Distal monosomy 15q

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3660618011 Distal 15q deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3660619015 Monosomy 15q26 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3660620014 Distal monosomy 15q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3660622018 15q26 deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3660623011 Telomeric 15q deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3660626015 Distal monosomy 15q syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3660627012 Distal monosomy 15q syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5404591015 Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404592010 Distal monosomy 15q is a rare chromosomal anomaly syndrome characterised by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphoedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal monosomy 15q	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Distal monosomy 15q	Finding site	Chromosome pair 15	false	Inferred relationship	Some	1
Distal monosomy 15q	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal monosomy 15q	Is a	Deletion of part of chromosome 15 (disorder)	false	Inferred relationship	Some
Distal monosomy 15q	Is a	Partial deletion of long arm of chromosome 15 (disorder)	true	Inferred relationship	Some
Distal monosomy 15q	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Distal monosomy 15q	Is a	Distal deletion of chromosome 15 (disorder)	true	Inferred relationship	Some
Distal monosomy 15q	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
Distal monosomy 15q	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Distal monosomy 15q	Occurrence	Congenital	true	Inferred relationship	Some	2
Distal monosomy 15q	Finding site	Chromosome pair 15	true	Inferred relationship	Some	2
Distal monosomy 15q	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
Distal monosomy 15q	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

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Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3660618011	Distal 15q deletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3660619015	Monosomy 15q26	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3660620014	Distal monosomy 15q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3660622018	15q26 deletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3660623011	Telomeric 15q deletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3660626015	Distal monosomy 15q syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3660627012	Distal monosomy 15q syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5404591015	Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404592010	Distal monosomy 15q is a rare chromosomal anomaly syndrome characterised by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphoedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core