1234819007: Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency

\Muscle finding\Myopathy\...

\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency

\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency

\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency

\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency

\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Myopathy\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Myopathy\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Metabolic disease\Chronic metabolic disorder\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Chronic disease\Chronic metabolic disorder\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Chronic disease\Chronic nervous system disorder\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Developmental disorder\Developmental delay\Limb girdle muscular dystrophy due to POMK deficiency
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Limb girdle muscular dystrophy due to POMK deficiency

Status: current, Primitive. Date: 31-Jul 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5084104014 Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency en Synonym Active Initial character case insensitive SNOMED CT core

5084105010 Limb girdle muscular dystrophy due to POMK deficiency en Synonym Active Initial character case insensitive SNOMED CT core

5084106011 Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

5084107019 A form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness and borderline intelligence. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Limb girdle muscular dystrophy due to POMK deficiency	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Limb girdle muscular dystrophy due to POMK deficiency	Is a	Chronic nervous system disorder	true	Inferred relationship	Some
Limb girdle muscular dystrophy due to POMK deficiency	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
Limb girdle muscular dystrophy due to POMK deficiency	Is a	Carbohydrate deficient glycoprotein syndrome	true	Inferred relationship	Some
Limb girdle muscular dystrophy due to POMK deficiency	Is a	Autosomal recessive muscular dystrophy with limb girdle distribution	true	Inferred relationship	Some
Limb girdle muscular dystrophy due to POMK deficiency	Clinical course	Progressive	true	Inferred relationship	Some	3
Limb girdle muscular dystrophy due to POMK deficiency	Occurrence	Congenital	true	Inferred relationship	Some	2
Limb girdle muscular dystrophy due to POMK deficiency	Finding site	Structure of nervous system	true	Inferred relationship	Some	4
Limb girdle muscular dystrophy due to POMK deficiency	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Limb girdle muscular dystrophy due to POMK deficiency	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Limb girdle muscular dystrophy due to POMK deficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Limb girdle muscular dystrophy due to POMK deficiency	Is a	Developmental delay	true	Inferred relationship	Some
Limb girdle muscular dystrophy due to POMK deficiency	Occurrence	Infancy	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5084104014	Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5084105010	Limb girdle muscular dystrophy due to POMK deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5084106011	Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5084107019	A form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness and borderline intelligence.	en	Definition	Active	Case sensitive	SNOMED CT core