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783061008: Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3757287015 Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3757288013 Monosomy 10p11.21p12.31 en Synonym Active Only initial character case insensitive SNOMED CT core module
3757289017 Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion en Synonym Active Only initial character case insensitive SNOMED CT core module
3757290014 10p12p11 microdeletion syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
3757291013 Deletion 10p11.21p12.31 en Synonym Active Only initial character case insensitive SNOMED CT core module
3757292018 Facial dysmorphism, developmental delay, behavioural abnormalities syndrome due to 10p11.21p12.31 microdeletion en Synonym Active Only initial character case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 1
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Existential restriction modifier
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Is a 10p partial monosomy syndrome true Inferred relationship Existential restriction modifier
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Finding site Chromosome pair 10 true Inferred relationship Existential restriction modifier 1
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Is a Intellectual disability false Inferred relationship Existential restriction modifier
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Is a Developmental delay false Inferred relationship Existential restriction modifier
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Finding site Face structure true Inferred relationship Existential restriction modifier 2
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 2
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Finding site Chromosome pair 10 true Inferred relationship Existential restriction modifier 3
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Associated morphology Deletion of short arm true Inferred relationship Existential restriction modifier 3
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Is a WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome true Inferred relationship Existential restriction modifier
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Interprets Intellectual ability true Inferred relationship Existential restriction modifier 4
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Has interpretation Impaired true Inferred relationship Existential restriction modifier 4
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 5
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Has interpretation Impaired true Inferred relationship Existential restriction modifier 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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