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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Finding of digit of hand\Finding of finger (finding)\Disorder of finger\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Disorder of limb\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669924016	Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669925015	Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399558012	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399559016	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4669923010	Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669924016	Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669925015	Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399558012	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399559016	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3413681001000116	Mikrognathie-rezidivierende Infekte-Verhaltensstörungen-milde Intelligenzminderung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3413681001000116	Mikrognathie-rezidivierende Infekte-Verhaltensstörungen-milde Intelligenzminderung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start