1260450002: Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Finding of pancreas\Disease of pancreas\Pancreatic insufficiency\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Digestive system finding (finding)\Finding of pancreas\Disease of pancreas\Pancreatic insufficiency\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of pancreas\Pancreatic insufficiency\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disease of pancreas\Pancreatic insufficiency\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Finding of pancreas\Disease of pancreas\Pancreatic insufficiency\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disease of pancreas\Pancreatic insufficiency\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disease of pancreas\Pancreatic insufficiency\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Finding of coordination\Ataxia\Hereditary ataxia (disorder)\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Ear and auditory finding\Hearing finding\Decreased hearing\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Functional finding\Decline in functional status (finding)\Decreased hearing\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Functional finding\Hearing finding\Decreased hearing\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disease of pancreas\Pancreatic insufficiency\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of pancreas\Pancreatic insufficiency\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Disease of pancreas\Pancreatic insufficiency\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
• \Disease\Developmental disorder (disorder)\Developmental delay\Global developmental delay\Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2023. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5160534014	IMNEPD - infantile multisystem neurologic, endocrine, pancreatic disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5160535010	Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5160536011	Infantile multisystem neurologic, endocrine, pancreatic disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400445018	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400446017	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterised by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5160534014	IMNEPD - infantile multisystem neurologic, endocrine, pancreatic disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5160535010	Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5160536011	Infantile multisystem neurologic, endocrine, pancreatic disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5160537019	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability with characteristics of global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400445018	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400446017	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterised by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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