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764466009: 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:

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
5404310016 Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by 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/retro-gnathia, and cleft or highly arched palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404311017 Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterised by 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/retro-gnathia, and cleft or highly arched palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
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
5404310016 Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by 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/retro-gnathia, and cleft or highly arched palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404311017 Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterised by 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/retro-gnathia, and cleft or highly arched palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3393961001000112 Mosaik-Trisomie 14 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5503521000241112 trisomie 14 en mosaïque fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5503521000241112 trisomie 14 en mosaïque fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393961001000112 Mosaik-Trisomie 14 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mosaic trisomy 14 syndrome Is a Anomaly of chromosome pair 14 true Inferred relationship Existential restriction modifier (core metadata concept)
Mosaic trisomy 14 syndrome Is a Trisomy and partial trisomy of autosome true Inferred relationship Existential restriction modifier (core metadata concept)
Mosaic trisomy 14 syndrome Associated morphology Chromosome mosaicism false Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 14 syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 14 syndrome Finding site Chromosome pair 14 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 14 syndrome Finding site Chromosome pair 14 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 14 syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 14 syndrome Associated morphology Trisomy (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 14 syndrome Associated morphology Trisomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 14 syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 14 syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 14 syndrome Associated morphology Chromosome mosaicism true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 14 syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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