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1172697000: X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability (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
4635434016 X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability en Synonym Active Entire term case sensitive SNOMED CT core module
4635435015 X-linked facial dysmorphism, short stature, choanal atresia, intellectual disability syndrome limited to females en Synonym Active Entire term case sensitive SNOMED CT core module
4635436019 X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Is a Intellectual disability true Inferred relationship Existential restriction modifier
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Is a X-linked dominant hereditary disease true Inferred relationship Existential restriction modifier
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Is a Global developmental delay true Inferred relationship Existential restriction modifier
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Occurrence Congenital true Inferred relationship Existential restriction modifier 1
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Finding site Face structure true Inferred relationship Existential restriction modifier 1
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Interprets Intellectual ability true Inferred relationship Existential restriction modifier 2
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Has interpretation Impaired true Inferred relationship Existential restriction modifier 2
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 3
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability 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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