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11704001: Chromosome mosaicism (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
20222011 Chromosome mosaicism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
684846018 Chromosome mosaicism (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
20222011 Chromosome mosaicism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
20222011 Chromosome mosaicism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
684846018 Chromosome mosaicism (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
684846018 Chromosome mosaicism (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome mosaicism Is a Mosaicism true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Mosaic trisomy 8 syndrome (disorder) Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 14 syndrome Associated morphology False Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 16 syndrome Associated morphology False Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 20 syndrome (disorder) Associated morphology False Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 22 syndrome Associated morphology False Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 5 syndrome Associated morphology False Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 4 syndrome (disorder) Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 10 syndrome (disorder) Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported. Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 17 syndrome (disorder) Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 2 syndrome (disorder) Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 7 syndrome (disorder) Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 9 syndrome (disorder) Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 3 syndrome Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 15 syndrome Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare autosomal trisomy, characterised by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism. Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic 1q duplication Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 1
Tetrasomy 5p mosaicism (disorder) Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 22 syndrome Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 21- mitotic nondisjunction mosaicism Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 20 syndrome (disorder) Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 14 syndrome Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 5 syndrome Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 16 syndrome Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 13 - mitotic nondisjunction mosaicism (disorder) Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 18 - mitotic nondisjunction mosaicism Associated morphology True Chromosome mosaicism Inferred relationship Existential restriction modifier (core metadata concept) 2

This concept is not in any reference sets

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