766931003: Hypomyelination neuropathy arthrogryposis syndrome (disorder)

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

\Deformity (finding)\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Deformity (finding)\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Hypomyelination neuropathy arthrogryposis syndrome (disorder)

\Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Finding of movement (finding)\Motor dysfunction\Akinesia\Hypomyelination neuropathy arthrogryposis syndrome (disorder)

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

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Hypomyelination neuropathy arthrogryposis syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Hypomyelination neuropathy arthrogryposis syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3663208011 Hypomyelination neuropathy arthrogryposis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

897911000172112 syndrome de neuropathie hypomyélinisante-arthrogrypose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

914451000172119 hypomyeliniserende neuropathie, artrogrypose-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3663207018	Hypomyelination neuropathy arthrogryposis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3663208011	Hypomyelination neuropathy arthrogryposis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
897911000172112	syndrome de neuropathie hypomyélinisante-arthrogrypose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
914451000172119	hypomyeliniserende neuropathie, artrogrypose-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)