FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

726370000: Deletion of part of long arm of chromosome 3 (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
3464868018 Deletion of part of long arm of chromosome 3 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3464869014 Deletion of part of long arm of chromosome 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6056641000241116 délétion partielle du chromosome 3q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6056651000241118 délétion partielle du bras long du chromosome 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6056661000241115 monosomie partielle du bras long du chromosome 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of long arm of chromosome 3 (disorder) Is a Deletion of part of chromosome 3 (disorder) true Inferred relationship Some
Deletion of part of long arm of chromosome 3 (disorder) Occurrence Congenital true Inferred relationship Some 2
Deletion of part of long arm of chromosome 3 (disorder) Finding site Chromosome pair 3 false Inferred relationship Some 2
Deletion of part of long arm of chromosome 3 (disorder) Occurrence Congenital true Inferred relationship Some 3
Deletion of part of long arm of chromosome 3 (disorder) Finding site Chromosome pair 3 true Inferred relationship Some 3
Deletion of part of long arm of chromosome 3 (disorder) Associated morphology Deletion of long arm false Inferred relationship Some 2
Deletion of part of long arm of chromosome 3 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 3
Deletion of part of long arm of chromosome 3 (disorder) Finding site Long arm of chromosome true Inferred relationship Some 2
Deletion of part of long arm of chromosome 3 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Is a True Deletion of part of long arm of chromosome 3 (disorder) Inferred relationship Some
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. Is a True Deletion of part of long arm of chromosome 3 (disorder) Inferred relationship Some
3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. Is a True Deletion of part of long arm of chromosome 3 (disorder) Inferred relationship Some
A rare partial autosomal microdeletion syndrome characterized by neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported. Is a True Deletion of part of long arm of chromosome 3 (disorder) Inferred relationship Some
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. Is a True Deletion of part of long arm of chromosome 3 (disorder) Inferred relationship Some
Distal deletion of long arm of chromosome 3 Is a True Deletion of part of long arm of chromosome 3 (disorder) Inferred relationship Some
Proximal deletion of long arm of chromosome 3 (disorder) Is a True Deletion of part of long arm of chromosome 3 (disorder) Inferred relationship Some

This concept is not in any reference sets

Back to Start