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733117001: Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3498793014 Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3498794015 Thumb stiffness, brachydactyly, intellectual disability syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3498795019 Piussan Lenaerts Mathieu syndrome en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Thumb stiffness, brachydactyly, intellectual disability syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier
Thumb stiffness, brachydactyly, intellectual disability syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier
Thumb stiffness, brachydactyly, intellectual disability syndrome Is a Brachydactyly true Inferred relationship Existential restriction modifier
Thumb stiffness, brachydactyly, intellectual disability syndrome Is a Mental retardation false Inferred relationship Existential restriction modifier
Thumb stiffness, brachydactyly, intellectual disability syndrome Is a Congenital anomaly of joint true Inferred relationship Existential restriction modifier
Thumb stiffness, brachydactyly, intellectual disability syndrome Is a Syndactyly of thumb false Inferred relationship Existential restriction modifier
Thumb stiffness, brachydactyly, intellectual disability syndrome Is a Lesion of joint false Inferred relationship Existential restriction modifier
Thumb stiffness, brachydactyly, intellectual disability syndrome Is a Finding of joint of thumb true Inferred relationship Existential restriction modifier
Thumb stiffness, brachydactyly, intellectual disability syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Thumb stiffness, brachydactyly, intellectual disability syndrome Is a Arthropathy of joint of hand false Inferred relationship Existential restriction modifier
Thumb stiffness, brachydactyly, intellectual disability syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Thumb stiffness, brachydactyly, intellectual disability syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 3
Thumb stiffness, brachydactyly, intellectual disability syndrome Associated morphology Congenital ankylosis false Inferred relationship Existential restriction modifier 2
Thumb stiffness, brachydactyly, intellectual disability syndrome Finding site Thumb joint structure true Inferred relationship Existential restriction modifier 2
Thumb stiffness, brachydactyly, intellectual disability syndrome Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier 3
Thumb stiffness, brachydactyly, intellectual disability syndrome Finding site Digit structure false Inferred relationship Existential restriction modifier 3
Thumb stiffness, brachydactyly, intellectual disability syndrome Is a Ankylosis of joint of hand true Inferred relationship Existential restriction modifier
Thumb stiffness, brachydactyly, intellectual disability syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Thumb stiffness, brachydactyly, intellectual disability syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Thumb stiffness, brachydactyly, intellectual disability syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Thumb stiffness, brachydactyly, intellectual disability syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Thumb stiffness, brachydactyly, intellectual disability syndrome Associated morphology Abnormally short growth true Inferred relationship Existential restriction modifier 1
Thumb stiffness, brachydactyly, intellectual disability syndrome Finding site Digit structure true Inferred relationship Existential restriction modifier 1
Thumb stiffness, brachydactyly, intellectual disability syndrome Associated morphology Ankylosis true Inferred relationship Existential restriction modifier 2
Thumb stiffness, brachydactyly, intellectual disability syndrome Is a Congenital malformation of thumb true Inferred relationship Existential restriction modifier
Thumb stiffness, brachydactyly, intellectual disability syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Thumb stiffness, brachydactyly, intellectual disability syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 3
Thumb stiffness, brachydactyly, intellectual disability syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 3
Thumb stiffness, brachydactyly, intellectual disability syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 4
Thumb stiffness, brachydactyly, intellectual disability syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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