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1187114007: Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome (disorder)


Status: current, Primitive. Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4669923010 Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core
4669924016 Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4669925015 Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core
4669926019 A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterised by mild global developmental delay, intellectual disability or learning difficulties, behavioural problems (like autistic, hyperactive, or aggressive behaviour), variable dysmorphic craniofacial features and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies among others. en Definition Active Case sensitive SNOMED CT core
4669927011 A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by mild global developmental delay, intellectual disability or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable dysmorphic craniofacial features and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies among others. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Is a Intellectual disability true Inferred relationship Some
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Is a Congenital anomaly of finger true Inferred relationship Some
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Occurrence Congenital true Inferred relationship Some 1
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Finding site Finger structure true Inferred relationship Some 1
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Occurrence Congenital true Inferred relationship Some 2
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Finding site Face structure true Inferred relationship Some 2
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Interprets Intellectual ability true Inferred relationship Some 3
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Has interpretation Impaired true Inferred relationship Some 3
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Interprets Adaptation behaviour true Inferred relationship Some 4
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Has interpretation Impaired true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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