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1169355000: Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
4607740010 Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
4607741014 Zhu Tokita Takenouchi Kim syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
4607742019 ZTTK syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
4607743012 Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Is a Genetic disease true Inferred relationship Existential restriction modifier
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 1
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 2
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 2
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 3
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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