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770401007: 10q22.3q23.3 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3700688012 10q22.3q23.3 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3700689016 Deletion 10q22.3q23.3 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3700690013 10q22.3q23.3 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3700691012 Monosomy 10q22.3q23.3 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5404766018 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip, cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404767010 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterised by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip, cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioural abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3700688012 10q22.3q23.3 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3700689016 Deletion 10q22.3q23.3 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3700690013 10q22.3q23.3 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3700691012 Monosomy 10q22.3q23.3 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3700696019 A rare partial autosomal monosomy with characteristics of mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip, cleft palate, cerebellar and cardiac malformations, psychomotor development delay, attention deficit hyperactivity disorder, autism. Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity and clubfoot, feeding difficulties, failure to thrive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404766018 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip, cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404767010 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterised by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip, cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioural abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3440471001000118 Mikrodeletionssyndrom 10q22.3q23.3 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
896681000172111 del(10)(q22.3q23.3) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
911031000172115 syndrome de microdélétion 10q22.3q23.3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
896681000172111 del(10)(q22.3q23.3) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
911031000172115 syndrome de microdélétion 10q22.3q23.3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3440471001000118 Mikrodeletionssyndrom 10q22.3q23.3 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
10q22.3q23.3 microdeletion syndrome Finding site Chromosome pair 10 true Inferred relationship Existential restriction modifier (core metadata concept) 2
10q22.3q23.3 microdeletion syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
10q22.3q23.3 microdeletion syndrome Finding site Chromosome pair 10 true Inferred relationship Existential restriction modifier (core metadata concept) 1
10q22.3q23.3 microdeletion syndrome Is a 10q partial monosomy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
10q22.3q23.3 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
10q22.3q23.3 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
10q22.3q23.3 microdeletion syndrome Associated morphology Deletion of long arm true Inferred relationship Existential restriction modifier (core metadata concept) 1
10q22.3q23.3 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
10q22.3q23.3 microdeletion syndrome Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
10q22.3q23.3 microdeletion syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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