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733300002: Deletion of part of long arm of chromosome 17 (disorder)

Status: current, 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
3499182011 Deletion of part of long arm of chromosome 17 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499183018 Deletion of part of long arm of chromosome 17 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5927001000241117 délétion partielle du bras long du chromosome 17 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5927011000241115 monosomie partielle du bras long du chromosome 17 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5927021000241110 délétion partielle du chromosome 17q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of long arm of chromosome 17 (disorder) Is a Deletion of part of chromosome 17 (disorder) true Inferred relationship Some
Deletion of part of long arm of chromosome 17 (disorder) Occurrence Congenital true Inferred relationship Some 2
Deletion of part of long arm of chromosome 17 (disorder) Finding site Chromosome pair 17 true Inferred relationship Some 2
Deletion of part of long arm of chromosome 17 (disorder) Occurrence Congenital false Inferred relationship Some 3
Deletion of part of long arm of chromosome 17 (disorder) Finding site Chromosome pair 17 false Inferred relationship Some 3
Deletion of part of long arm of chromosome 17 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Deletion of part of long arm of chromosome 17 (disorder) Associated morphology Deletion of long arm false Inferred relationship Some 3
Deletion of part of long arm of chromosome 17 (disorder) Occurrence Congenital true Inferred relationship Some 1
Deletion of part of long arm of chromosome 17 (disorder) Finding site Long arm of chromosome true Inferred relationship Some 1
Deletion of part of long arm of chromosome 17 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. Is a True Deletion of part of long arm of chromosome 17 (disorder) Inferred relationship Some
A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24. Is a True Deletion of part of long arm of chromosome 17 (disorder) Inferred relationship Some
17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 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 have also been reported. Is a True Deletion of part of long arm of chromosome 17 (disorder) Inferred relationship Some
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. Is a True Deletion of part of long arm of chromosome 17 (disorder) Inferred relationship Some
Proximal deletion of long arm of chromosome 17 (disorder) Is a True Deletion of part of long arm of chromosome 17 (disorder) Inferred relationship Some
A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders. Is a True Deletion of part of long arm of chromosome 17 (disorder) Inferred relationship Some

This concept is not in any reference sets

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