1360075006: Hao Fountain syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Genetic intellectual disability\Hao Fountain syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\Hao Fountain syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Hao Fountain syndrome
• \Functional finding\Communication disorder\Disorder of language\Developmental language disorder (disorder)\Developmental speech disorder\Speech delay\Hao Fountain syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Hao Fountain syndrome
• \Functional finding\Language finding\Disorder of language\Developmental language disorder (disorder)\Developmental speech disorder\Speech delay\Hao Fountain syndrome
• \Speech finding\Speech and language finding\...
• \Communication, speech and language finding\Communication disorder\Disorder of language\Developmental language disorder (disorder)\Developmental speech disorder\Speech delay\Hao Fountain syndrome
• \Language finding\Disorder of language\Developmental language disorder (disorder)\Developmental speech disorder\Speech delay\Hao Fountain syndrome
• \Disease\Genetic disease\Genetic intellectual disability\Hao Fountain syndrome
• \Disease\Communication disorder\Disorder of language\Developmental language disorder (disorder)\Developmental speech disorder\Speech delay\Hao Fountain syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Neurodevelopmental delay (disorder)\Hao Fountain syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Genetic intellectual disability\Hao Fountain syndrome
• \Disease\Developmental disorder\Developmental language disorder (disorder)\Developmental speech disorder\Speech delay\Hao Fountain syndrome
• \Disease\Developmental disorder\Developmental delay\Neurodevelopmental delay (disorder)\Hao Fountain syndrome
• \Disease\Developmental disorder\Developmental delay\Speech delay\Hao Fountain syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Hao Fountain syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2025. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5439612019	Hao Fountain syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5439613012	Hao Fountain syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5439614018	HAFOUS - Hao Fountain syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5439622013	A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of USP7 gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, esotropia, strabismus, and nystagmus).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5439623015	A rare genetic intellectual disability syndrome characterised by global developmental delay, intellectual disability, severe speech delay, behavioural abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviours, temper tantrums, and aggressive behaviours), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of USP7 gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioural abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, esotropia, strabismus, and nystagmus).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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

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