1259560001: Congenital multi-minicore disease with external ophthalmoplegia (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of movement\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia

\General finding of soft tissue\Disorder of soft tissue\...

\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia

\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Multi-core congenital myopathy\Congenital multi-minicore disease with external ophthalmoplegia

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Finding of head region\Orbit finding\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia

\Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Disorder of head\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia

\Eye / vision finding\Orbit finding\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Eye / vision finding\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia

\Muscle finding\Myopathy\Disorder of skeletal muscle\...

\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia

\Congenital anomaly of skeletal muscle\Multi-core congenital myopathy\Congenital multi-minicore disease with external ophthalmoplegia

\Musculoskeletal finding\Musculoskeletal disorder\...

\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Multi-core congenital myopathy\Congenital multi-minicore disease with external ophthalmoplegia

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Multi-core congenital myopathy\Congenital multi-minicore disease with external ophthalmoplegia

\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia

\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Disease\Disorder of body system\Neurological disorder\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Multi-core congenital myopathy\Congenital multi-minicore disease with external ophthalmoplegia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Multi-core congenital myopathy\Congenital multi-minicore disease with external ophthalmoplegia
\Disease\Myopathy\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Multi-core congenital myopathy\Congenital multi-minicore disease with external ophthalmoplegia
\Disease\Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Disease\Disorder of head\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Multi-core congenital myopathy\Congenital multi-minicore disease with external ophthalmoplegia
\Disease\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Congenital multi-minicore disease with external ophthalmoplegia
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Multi-core congenital myopathy\Congenital multi-minicore disease with external ophthalmoplegia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Multi-core congenital myopathy\Congenital multi-minicore disease with external ophthalmoplegia

Status: current, Primitive. Date: 31-Jan 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5157299018 Congenital multi-minicore disease with external ophthalmoplegia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

5157300014 Congenital multi-minicore disease with external ophthalmoplegia en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital multi-minicore disease with external ophthalmoplegia	Is a	External ophthalmoplegia	true	Inferred relationship	Some
Congenital multi-minicore disease with external ophthalmoplegia	Is a	Multi-core congenital myopathy	true	Inferred relationship	Some
Congenital multi-minicore disease with external ophthalmoplegia	Interprets	Movement	true	Inferred relationship	Some	4
Congenital multi-minicore disease with external ophthalmoplegia	Finding site	Structure of extraocular muscle	true	Inferred relationship	Some	2
Congenital multi-minicore disease with external ophthalmoplegia	Finding site	Structure of nervous system	true	Inferred relationship	Some	5
Congenital multi-minicore disease with external ophthalmoplegia	Interprets	Movement observable	true	Inferred relationship	Some	3
Congenital multi-minicore disease with external ophthalmoplegia	Has interpretation	Absent	true	Inferred relationship	Some	3
Congenital multi-minicore disease with external ophthalmoplegia	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital multi-minicore disease with external ophthalmoplegia	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Congenital multi-minicore disease with external ophthalmoplegia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital multi-minicore disease with external ophthalmoplegia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set