1172591008: Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome (disorder)

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

\Deformity (finding)\Deformity of spine (finding)\Curvature of spine\Kyphosis deformity of spine (disorder)\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Curvature of spine\Kyphosis deformity of spine (disorder)\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Finding of back (finding)\Finding of spinal region\Deformity of spine (finding)\Curvature of spine\Kyphosis deformity of spine (disorder)\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Curvature of spine\Kyphosis deformity of spine (disorder)\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome

\Digestive system finding (finding)\Finding of mouth region (finding)\Disease of mouth\Disorder of oral soft tissues (disorder)\Disorder of tongue (disorder)\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Tongue finding\Disorder of tongue (disorder)\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Chronic digestive system disorder\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Disorder of oral soft tissues (disorder)\Disorder of tongue (disorder)\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of tongue (disorder)\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome

\General finding of soft tissue\Tongue finding\Disorder of tongue (disorder)\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues (disorder)\Disorder of tongue (disorder)\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome

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

\Finding of head region\Finding of mouth region (finding)\...

\Disease of mouth\Disorder of oral soft tissues (disorder)\Disorder of tongue (disorder)\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome

\Oral cavity finding (finding)\Tongue finding\Disorder of tongue (disorder)\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome

\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of oral soft tissues (disorder)\Disorder of tongue (disorder)\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disorder of head (disorder)\Disease of mouth\Disorder of oral soft tissues (disorder)\Disorder of tongue (disorder)\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Myofibrillar myopathy\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Kyphosis deformity of spine (disorder)\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome

\Hereditary disorder of musculoskeletal system\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome

\Chronic disease of musculoskeletal system\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome

\Disorder of skeletal muscle\Myofibrillar myopathy\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Degenerative disorder\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Chronic digestive system disorder\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Disorder of oral soft tissues (disorder)\Disorder of tongue (disorder)\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of tongue (disorder)\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Kyphosis deformity of spine (disorder)\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myofibrillar myopathy\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myofibrillar myopathy\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of oral soft tissues (disorder)\Disorder of tongue (disorder)\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Disorder of head (disorder)\Disease of mouth\Disorder of oral soft tissues (disorder)\Disorder of tongue (disorder)\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Disorder of back\Disorder of spinal region (disorder)\Curvature of spine\Kyphosis deformity of spine (disorder)\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Chronic disease\Chronic digestive system disorder\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues (disorder)\Disorder of tongue (disorder)\Atrophy of tongue\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4634499018 Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4634500010 Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4634501014 A rare genetic skeletal muscle disease with characteristics of neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. In addition progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities has been reported. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4634502019 A rare genetic skeletal muscle disease with characteristics of neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. In addition progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioural abnormalities has been reported. Muscle biopsy shows myopathic changes with increased fibre size variation, internalised nuclei, fibre atrophy, as well as rod structures and core targetoid defects. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

14034421000172118 syndrome de cyphose, atrophie latérale de la langue et myopathie myofibrillaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7231601000172114 syndroom van kyfose, laterale atrofie van tong en myofibrillaire myopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7231611000172112 syndroom van kyfose, laterale tongatrofie en myofibrillaire myopathie 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
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Some
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Is a	Myofibrillar myopathy	true	Inferred relationship	Some
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	1
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	2
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Is a	Chronic digestive system disorder	true	Inferred relationship	Some
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Is a	Atrophy of tongue	true	Inferred relationship	Some
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Is a	Curvature of spine	false	Inferred relationship	Some
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Finding site	Structure of lateral margin of tongue	true	Inferred relationship	Some	3
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Associated morphology	Atrophy	true	Inferred relationship	Some	3
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Finding site	Structure of vertebral column region (body structure)	false	Inferred relationship	Some	4
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Associated morphology	Abnormal curvature	false	Inferred relationship	Some	4
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Finding site	Musculoskeletal structure of spine	true	Inferred relationship	Some	4
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Associated morphology	Anteroposterior abnormal curvature (morphologic abnormality)	true	Inferred relationship	Some	4
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Is a	Kyphosis deformity of spine (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4634499018	Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634500010	Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634501014	A rare genetic skeletal muscle disease with characteristics of neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. In addition progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities has been reported. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634502019	A rare genetic skeletal muscle disease with characteristics of neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. In addition progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioural abnormalities has been reported. Muscle biopsy shows myopathic changes with increased fibre size variation, internalised nuclei, fibre atrophy, as well as rod structures and core targetoid defects.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
14034421000172118	syndrome de cyphose, atrophie latérale de la langue et myopathie myofibrillaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7231601000172114	syndroom van kyfose, laterale atrofie van tong en myofibrillaire myopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7231611000172112	syndroom van kyfose, laterale tongatrofie en myofibrillaire myopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)