733091002: Isolated hereditary congenital facial paralysis (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of movement\Movement disorder\Facial palsy\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis
\Finding of movement\Motor dysfunction\Paralysis\Facial palsy\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis

\General finding of soft tissue\Peripheral nerve finding\Peripheral neuropathy\Disorder of facial nerve\Facial palsy\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis
\General finding of soft tissue\Peripheral nerve finding\Peripheral neuropathy\Disorder of facial nerve\Congenital disorder of facial nerve\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis
\General finding of soft tissue\Peripheral nerve finding\Peripheral neuropathy\Congenital anomaly of peripheral nerve\Isolated hereditary congenital facial paralysis
\General finding of soft tissue\Peripheral nerve finding\Facial nerve finding\Facial palsy\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis
\General finding of soft tissue\Disorder of soft tissue\Peripheral neuropathy\Disorder of facial nerve\Facial palsy\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis
\General finding of soft tissue\Disorder of soft tissue\Peripheral neuropathy\Disorder of facial nerve\Congenital disorder of facial nerve\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis
\General finding of soft tissue\Disorder of soft tissue\Peripheral neuropathy\Congenital anomaly of peripheral nerve\Isolated hereditary congenital facial paralysis

\Finding of head and neck region\Disorder of facial nerve\Facial palsy\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis
\Finding of head and neck region\Disorder of facial nerve\Congenital disorder of facial nerve\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis
\Finding of head and neck region\Congenital anomaly of nervous system of head/neck\Isolated hereditary congenital facial paralysis
\Finding of head and neck region\Facial nerve finding\Facial palsy\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis

\Neurological finding\Cranial nerve finding\Facial nerve finding\Facial palsy\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis
\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Facial palsy\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Isolated hereditary congenital facial paralysis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Isolated hereditary congenital facial paralysis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Isolated hereditary congenital facial paralysis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Isolated hereditary congenital facial paralysis
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Disorder of facial nerve\Facial palsy\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Disorder of facial nerve\Congenital disorder of facial nerve\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Congenital anomaly of peripheral nerve\Isolated hereditary congenital facial paralysis
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of facial nerve\Facial palsy\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of facial nerve\Congenital disorder of facial nerve\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Isolated hereditary congenital facial paralysis
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of nervous system of head/neck\Isolated hereditary congenital facial paralysis
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\Isolated hereditary congenital facial paralysis
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Disorder of facial nerve\Facial palsy\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Disorder of facial nerve\Congenital disorder of facial nerve\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Congenital anomaly of peripheral nerve\Isolated hereditary congenital facial paralysis
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\Isolated hereditary congenital facial paralysis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of nervous system of head/neck\Isolated hereditary congenital facial paralysis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\Isolated hereditary congenital facial paralysis
\Disease\Congenital disease\Congenital disorder of facial nerve\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis
\Disease\Movement disorder\Facial palsy\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis
\Disease\Disorder of soft tissue\Peripheral neuropathy\Disorder of facial nerve\Facial palsy\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis
\Disease\Disorder of soft tissue\Peripheral neuropathy\Disorder of facial nerve\Congenital disorder of facial nerve\Congenital facial nerve palsy\Isolated hereditary congenital facial paralysis
\Disease\Disorder of soft tissue\Peripheral neuropathy\Congenital anomaly of peripheral nerve\Isolated hereditary congenital facial paralysis
\Disease\Developmental disorder\Developmental hereditary disorder\Isolated hereditary congenital facial paralysis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of nervous system of head/neck\Isolated hereditary congenital facial paralysis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\Isolated hereditary congenital facial paralysis

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498731014 Isolated hereditary congenital facial paralysis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3498732019 Isolated hereditary congenital facial paralysis en Synonym Active Case insensitive SNOMED CT core

3499970018 An extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Isolated hereditary congenital facial paralysis	Occurrence	Congenital	true	Inferred relationship	Some	1
Isolated hereditary congenital facial paralysis	Associated morphology	Aplasia	true	Inferred relationship	Some	1
Isolated hereditary congenital facial paralysis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Isolated hereditary congenital facial paralysis	Finding site	Facial nerve structure	true	Inferred relationship	Some	1
Isolated hereditary congenital facial paralysis	Is a	Congenital anomaly of nervous system of head/neck	true	Inferred relationship	Some
Isolated hereditary congenital facial paralysis	Interprets	Movement	true	Inferred relationship	Some	3
Isolated hereditary congenital facial paralysis	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Isolated hereditary congenital facial paralysis	Interprets	Movement observable	true	Inferred relationship	Some	2
Isolated hereditary congenital facial paralysis	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Isolated hereditary congenital facial paralysis	Is a	Congenital anomaly of peripheral nerve	true	Inferred relationship	Some
Isolated hereditary congenital facial paralysis	Is a	Congenital facial nerve palsy	true	Inferred relationship	Some
Isolated hereditary congenital facial paralysis	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Isolated hereditary congenital facial paralysis	Has interpretation	Absent	true	Inferred relationship	Some	2
Isolated hereditary congenital facial paralysis	Interprets	Gross movement of body and limbs	false	Inferred relationship	Some	2
Isolated hereditary congenital facial paralysis	Associated morphology	Aplasia	false	Inferred relationship	Some	3
Isolated hereditary congenital facial paralysis	Occurrence	Congenital	false	Inferred relationship	Some	3
Isolated hereditary congenital facial paralysis	Finding site	Facial nerve structure	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498731014	Isolated hereditary congenital facial paralysis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3498732019	Isolated hereditary congenital facial paralysis	en	Synonym	Active	Case insensitive	SNOMED CT core
3499970018	An extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.	en	Definition	Active	Case sensitive	SNOMED CT core