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764447009: Distal trisomy 11q (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3650155014 Telomeric duplication 11q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3650156010 Distal trisomy 11q (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3650157018 Distal trisomy 11q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3650158011 Distal duplication 11q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5404290018 Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (including brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404291019 Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterised by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (including brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3650155014 Telomeric duplication 11q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3650156010 Distal trisomy 11q (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3650157018 Distal trisomy 11q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3650158011 Distal duplication 11q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3649871013 A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 11 with high phenotypic variability. Principle characteristics are craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (atrial septal defect), skeletal (brachy/syndactyly) and genital (micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404290018 Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (including brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404291019 Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterised by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (including brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3385271001000113 Trisomie 11q, distale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
981621000172112 duplication distale 11q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
983771000172117 trisomie distale 11q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
981621000172112 duplication distale 11q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
983771000172117 trisomie distale 11q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3385271001000113 Trisomie 11q, distale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal trisomy 11q Is a 11q partial trisomy syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Distal trisomy 11q Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 11q Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 11q Finding site Chromosome pair 11 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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