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1153430004: Partial deletion of long arm of chromosome 14 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4564290013 Partial deletion of chromosome 14q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4564291012 Partial deletion of long arm of chromosome 14 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4564292017 Partial deletion of long arm of chromosome 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6466991000241117 délétion d'une partie du bras long du chromosome 14 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6467001000241112 délétion partielle du bras long du chromosome 14 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
Partial deletion of long arm of chromosome 14 (disorder) Occurrence Congenital true Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) Is a Deletion of part of chromosome 14 (disorder) true Inferred relationship Some
Partial deletion of long arm of chromosome 14 (disorder) Finding site Long arm of chromosome true Inferred relationship Some 1
Partial deletion of long arm of chromosome 14 (disorder) Occurrence Congenital true Inferred relationship Some 1
Partial deletion of long arm of chromosome 14 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) Finding site Chromosome pair 14 true Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression. Is a True Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. Is a True Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some
14q24.1q24.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features. Is a True Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some
14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. Is a True Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some
syndrome de délétion 14q32 Is a False Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some
Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and ophthalmological anomalies were also reported. Is a True Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some
Paternal 14q32.2 microdeletion (disorder) Is a True Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some

This concept is not in any reference sets

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