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726367004: Deletion of part of long arm of chromosome 2 (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
3464864016 Deletion of part of long arm of chromosome 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3464865015 Deletion of part of long arm of chromosome 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

9 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of long arm of chromosome 2 (disorder) Is a Deletion of part of chromosome 2 (disorder) true Inferred relationship Some
Deletion of part of long arm of chromosome 2 (disorder) Occurrence Congenital true Inferred relationship Some 2
Deletion of part of long arm of chromosome 2 (disorder) Finding site Chromosome pair 2 (cell structure) true Inferred relationship Some 2
Deletion of part of long arm of chromosome 2 (disorder) Occurrence Congenital false Inferred relationship Some 3
Deletion of part of long arm of chromosome 2 (disorder) Finding site Chromosome pair 2 (cell structure) false Inferred relationship Some 3
Deletion of part of long arm of chromosome 2 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Deletion of part of long arm of chromosome 2 (disorder) Associated morphology Deletion of long arm false Inferred relationship Some 3
Deletion of part of long arm of chromosome 2 (disorder) Occurrence Congenital true Inferred relationship Some 1
Deletion of part of long arm of chromosome 2 (disorder) Finding site Long arm of chromosome true Inferred relationship Some 1
Deletion of part of long arm of chromosome 2 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. Is a True Deletion of part of long arm of chromosome 2 (disorder) Inferred relationship Some
The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. Is a True Deletion of part of long arm of chromosome 2 (disorder) Inferred relationship Some
2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. Is a True Deletion of part of long arm of chromosome 2 (disorder) Inferred relationship Some
A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features. Is a True Deletion of part of long arm of chromosome 2 (disorder) Inferred relationship Some
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated. Is a True Deletion of part of long arm of chromosome 2 (disorder) Inferred relationship Some
Chromosome 2q37 deletion syndrome Is a True Deletion of part of long arm of chromosome 2 (disorder) Inferred relationship Some
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Due to True Deletion of part of long arm of chromosome 2 (disorder) Inferred relationship Some 1
Distal deletion of long arm of chromosome 2 (disorder) Is a True Deletion of part of long arm of chromosome 2 (disorder) Inferred relationship Some
Medial deletion of long arm of chromosome 2 Is a True Deletion of part of long arm of chromosome 2 (disorder) Inferred relationship Some
Proximal deletion of long arm of chromosome 2 Is a True Deletion of part of long arm of chromosome 2 (disorder) Inferred relationship Some

This concept is not in any reference sets

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