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

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Pancreatic insufficiency\Infantile multisystem neurologic, endocrine, pancreatic disease

\Digestive system finding\Finding of pancreas\Disorder of pancreas\Pancreatic insufficiency\Infantile multisystem neurologic, endocrine, pancreatic disease
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of pancreas\Pancreatic insufficiency\Infantile multisystem neurologic, endocrine, pancreatic disease

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Infantile multisystem neurologic, endocrine, pancreatic disease

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of pancreas\Pancreatic insufficiency\Infantile multisystem neurologic, endocrine, pancreatic disease
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Pancreatic insufficiency\Infantile multisystem neurologic, endocrine, pancreatic disease
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of pancreas\Pancreatic insufficiency\Infantile multisystem neurologic, endocrine, pancreatic disease
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of pancreas\Pancreatic insufficiency\Infantile multisystem neurologic, endocrine, pancreatic disease

\Finding related to coordination / incoordination\Ataxia\Hereditary ataxia\Infantile multisystem neurologic, endocrine, pancreatic disease

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Infantile multisystem neurologic, endocrine, pancreatic disease
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Infantile multisystem neurologic, endocrine, pancreatic disease
\Ear and auditory finding\Hearing finding\Decreased hearing\Infantile multisystem neurologic, endocrine, pancreatic disease

\Functional finding\Decline in functional status\Decreased hearing\Infantile multisystem neurologic, endocrine, pancreatic disease
\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Infantile multisystem neurologic, endocrine, pancreatic disease
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Infantile multisystem neurologic, endocrine, pancreatic disease
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Infantile multisystem neurologic, endocrine, pancreatic disease
\Functional finding\Hearing finding\Decreased hearing\Infantile multisystem neurologic, endocrine, pancreatic disease
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Infantile multisystem neurologic, endocrine, pancreatic disease

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Infantile multisystem neurologic, endocrine, pancreatic disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Infantile multisystem neurologic, endocrine, pancreatic disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Infantile multisystem neurologic, endocrine, pancreatic disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Infantile multisystem neurologic, endocrine, pancreatic disease
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Infantile multisystem neurologic, endocrine, pancreatic disease
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Pancreatic insufficiency\Infantile multisystem neurologic, endocrine, pancreatic disease
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Infantile multisystem neurologic, endocrine, pancreatic disease
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary ataxia\Infantile multisystem neurologic, endocrine, pancreatic disease
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of pancreas\Pancreatic insufficiency\Infantile multisystem neurologic, endocrine, pancreatic disease
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Disorder of pancreas\Pancreatic insufficiency\Infantile multisystem neurologic, endocrine, pancreatic disease
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Infantile multisystem neurologic, endocrine, pancreatic disease
\Disease\Developmental disorder\Developmental hereditary disorder\Infantile multisystem neurologic, endocrine, pancreatic disease
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Infantile multisystem neurologic, endocrine, pancreatic disease

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

Descriptions:

Id Description Lang Type Status Case? Module

5160534014 IMNEPD - infantile multisystem neurologic, endocrine, pancreatic disease en Synonym Active Entire term case sensitive SNOMED CT core module

5160535010 Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5160536011 Infantile multisystem neurologic, endocrine, pancreatic disease en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile multisystem neurologic, endocrine, pancreatic disease	Is a	Decreased hearing	true	Inferred relationship	Existential restriction modifier
Infantile multisystem neurologic, endocrine, pancreatic disease	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Infantile multisystem neurologic, endocrine, pancreatic disease	Is a	Global developmental delay	true	Inferred relationship	Existential restriction modifier
Infantile multisystem neurologic, endocrine, pancreatic disease	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Infantile multisystem neurologic, endocrine, pancreatic disease	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Infantile multisystem neurologic, endocrine, pancreatic disease	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Infantile multisystem neurologic, endocrine, pancreatic disease	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Existential restriction modifier
Infantile multisystem neurologic, endocrine, pancreatic disease	Is a	Pancreatic insufficiency	true	Inferred relationship	Existential restriction modifier
Infantile multisystem neurologic, endocrine, pancreatic disease	Is a	Sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier
Infantile multisystem neurologic, endocrine, pancreatic disease	Is a	Hereditary ataxia	true	Inferred relationship	Existential restriction modifier
Infantile multisystem neurologic, endocrine, pancreatic disease	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Infantile multisystem neurologic, endocrine, pancreatic disease	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	8
Infantile multisystem neurologic, endocrine, pancreatic disease	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	4
Infantile multisystem neurologic, endocrine, pancreatic disease	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	4
Infantile multisystem neurologic, endocrine, pancreatic disease	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	5
Infantile multisystem neurologic, endocrine, pancreatic disease	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Infantile multisystem neurologic, endocrine, pancreatic disease	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	6
Infantile multisystem neurologic, endocrine, pancreatic disease	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6
Infantile multisystem neurologic, endocrine, pancreatic disease	Occurrence	Infancy	true	Inferred relationship	Existential restriction modifier	1
Infantile multisystem neurologic, endocrine, pancreatic disease	Finding site	Pancreatic structure	true	Inferred relationship	Existential restriction modifier	1
Infantile multisystem neurologic, endocrine, pancreatic disease	Occurrence	Infancy	true	Inferred relationship	Existential restriction modifier	2
Infantile multisystem neurologic, endocrine, pancreatic disease	Finding site	Structure of nervous system	true	Inferred relationship	Existential restriction modifier	2
Infantile multisystem neurologic, endocrine, pancreatic disease	Occurrence	Infancy	true	Inferred relationship	Existential restriction modifier	3
Infantile multisystem neurologic, endocrine, pancreatic disease	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5160534014	IMNEPD - infantile multisystem neurologic, endocrine, pancreatic disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5160535010	Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5160536011	Infantile multisystem neurologic, endocrine, pancreatic disease	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module