766931003: Hypomyelination neuropathy arthrogryposis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Hypomyelination neuropathy arthrogryposis syndrome
\Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Hypomyelination neuropathy arthrogryposis syndrome
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome

\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Hypomyelination neuropathy arthrogryposis syndrome
\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Hypomyelination neuropathy arthrogryposis syndrome
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome
\Finding of movement\Motor dysfunction\Akinesia\Hypomyelination neuropathy arthrogryposis syndrome

\Neurological finding\Motor nervous system finding\Motor dysfunction\Akinesia\Hypomyelination neuropathy arthrogryposis syndrome

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Hypomyelination neuropathy arthrogryposis syndrome
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hypomyelination neuropathy arthrogryposis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypomyelination neuropathy arthrogryposis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hypomyelination neuropathy arthrogryposis syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Hypomyelination neuropathy arthrogryposis syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hypomyelination neuropathy arthrogryposis syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Hypomyelination neuropathy arthrogryposis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Amyoplasia congenita disruptive sequence\Hypomyelination neuropathy arthrogryposis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Hypomyelination neuropathy arthrogryposis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Hypomyelination neuropathy arthrogryposis syndrome
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Hypomyelination neuropathy arthrogryposis syndrome
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Amyoplasia congenita disruptive sequence\Hypomyelination neuropathy arthrogryposis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Hypomyelination neuropathy arthrogryposis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Hypomyelination neuropathy arthrogryposis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Hypomyelination neuropathy arthrogryposis syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3663207018 Hypomyelination neuropathy arthrogryposis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3663208011 Hypomyelination neuropathy arthrogryposis syndrome en Synonym Active Case insensitive SNOMED CT core

3663209015 A rare genetic limb malformation syndrome with characteristics of multiple congenital distal joint contractures (including talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (such as lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypomyelination neuropathy arthrogryposis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Hypomyelination neuropathy arthrogryposis syndrome	Is a	Congenital and developmental anomalies of the nervous system	false	Inferred relationship	Some
Hypomyelination neuropathy arthrogryposis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Hypomyelination neuropathy arthrogryposis syndrome	Interprets	Range of joint movement	true	Inferred relationship	Some	3
Hypomyelination neuropathy arthrogryposis syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	3
Hypomyelination neuropathy arthrogryposis syndrome	Is a	Akinesia	true	Inferred relationship	Some
Hypomyelination neuropathy arthrogryposis syndrome	Finding site	Structure of joint region	true	Inferred relationship	Some	2
Hypomyelination neuropathy arthrogryposis syndrome	Is a	Distal arthrogryposis syndrome	true	Inferred relationship	Some
Hypomyelination neuropathy arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Some	2
Hypomyelination neuropathy arthrogryposis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Hypomyelination neuropathy arthrogryposis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Hypomyelination neuropathy arthrogryposis syndrome	Is a	Neuropathy	true	Inferred relationship	Some
Hypomyelination neuropathy arthrogryposis syndrome	Finding site	Nerve structure	true	Inferred relationship	Some	1
Hypomyelination neuropathy arthrogryposis syndrome	Is a	Inherited arthrogryposis	false	Inferred relationship	Some
Hypomyelination neuropathy arthrogryposis syndrome	Associated morphology	Hypomyelination	true	Inferred relationship	Some	1
Hypomyelination neuropathy arthrogryposis syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Hypomyelination neuropathy arthrogryposis syndrome	Is a	Congenital anomaly of nervous system	true	Inferred relationship	Some
Hypomyelination neuropathy arthrogryposis syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Hypomyelination neuropathy arthrogryposis syndrome	Associated morphology	Contracture	true	Inferred relationship	Some	2
Hypomyelination neuropathy arthrogryposis syndrome	Is a	Amyoplasia congenita disruptive sequence	true	Inferred relationship	Some
Hypomyelination neuropathy arthrogryposis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Hypomyelination neuropathy arthrogryposis syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hypomyelination neuropathy arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3663207018	Hypomyelination neuropathy arthrogryposis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3663208011	Hypomyelination neuropathy arthrogryposis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3663209015	A rare genetic limb malformation syndrome with characteristics of multiple congenital distal joint contractures (including talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (such as lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.	en	Definition	Active	Case sensitive	SNOMED CT core