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

SNOMED CT Concept\Clinical finding (finding)\...

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

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

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

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

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

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

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

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

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

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