764466009: syndroom van mozaïekvorm van trisomie 14 (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Mosaic trisomy 14 syndrome (disorder)

\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Mosaic trisomy 14 syndrome (disorder)
\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 14 syndrome (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Mosaic trisomy 14 syndrome (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Mosaic trisomy 14 syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Mosaic trisomy 14 syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 14 syndrome (disorder)

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Mosaic trisomy 14 syndrome (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mosaic trisomy 14 syndrome (disorder)	Is a	Anomaly of chromosome pair 14	true	Inferred relationship	Some
Mosaic trisomy 14 syndrome (disorder)	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Mosaic trisomy 14 syndrome (disorder)	Associated morphology	Chromosome mosaicism	false	Inferred relationship	Some	2
Mosaic trisomy 14 syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Mosaic trisomy 14 syndrome (disorder)	Finding site	Chromosome pair 14	true	Inferred relationship	Some	2
Mosaic trisomy 14 syndrome (disorder)	Finding site	Chromosome pair 14	true	Inferred relationship	Some	1
Mosaic trisomy 14 syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Mosaic trisomy 14 syndrome (disorder)	Associated morphology	Trisomy	false	Inferred relationship	Some	1
Mosaic trisomy 14 syndrome (disorder)	Associated morphology	Trisomy	true	Inferred relationship	Some	2
Mosaic trisomy 14 syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Mosaic trisomy 14 syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Mosaic trisomy 14 syndrome (disorder)	Associated morphology	Chromosome mosaicism	true	Inferred relationship	Some	1
Mosaic trisomy 14 syndrome (disorder)	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
3649965018	Mosaic trisomy 14 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649966017	Mosaic trisomy 14 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649967014	Mosaic trisomy chromosome 14	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649968016	Trisomy 14 mosaicism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649969012	Mosaic trisomy 14	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7976541000146110	mozaïektrisomie 14	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7976641000146114	mozaïektrisomie van chromosoom 14	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8724001000146111	syndroom van mozaïekvorm van trisomie 14 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8724011000146113	mozaïcisme van trisomie 14	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8724031000146118	syndroom van mozaïekvorm van trisomie 14	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3649970013	A rare chromosomal anomaly disorder with a highly variable phenotype. Principle characteristics are growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retrognathia and cleft or highly arched palate.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core