890368007: Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\...

\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)

\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)

\Muscle finding\Disorder of muscle\...

\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)

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

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)

\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)

\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4012914017 Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4012916015 Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4012915016 Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterized by severe muscular dystrophy presenting at birth or in the first few weeks of life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4355090018 Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterised by severe muscular dystrophy presenting at birth or in the first few weeks of life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

7667161000172117 dystrophie musculaire congénitale de type 1C due à une mutation génétique de la protéine liée à la fukutine fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7667171000172114 DMC1C - dystrophie musculaire congénitale de type 1C due à une mutation génétique de la protéine liée à la fukutine fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

7667181000172112 CMD1C - congenital muscular dystrophy type 1C due to fukutin related protein gene mutation fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

5541741000172110 congenitale spierdystrofie type 1C door genmutatie van fukutine-gerelateerd eiwit nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5541751000172112 congenitale spierdystrofie type 1C door genetische mutatie van fukutine-gerelateerd eiwit nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)	Is a	Congenital hereditary muscular dystrophy	true	Inferred relationship	Some
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	1
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4012914017	Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4012916015	Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4012915016	Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterized by severe muscular dystrophy presenting at birth or in the first few weeks of life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4355090018	Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterised by severe muscular dystrophy presenting at birth or in the first few weeks of life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
7667161000172117	dystrophie musculaire congénitale de type 1C due à une mutation génétique de la protéine liée à la fukutine	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7667171000172114	DMC1C - dystrophie musculaire congénitale de type 1C due à une mutation génétique de la protéine liée à la fukutine	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
7667181000172112	CMD1C - congenital muscular dystrophy type 1C due to fukutin related protein gene mutation	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5541741000172110	congenitale spierdystrofie type 1C door genmutatie van fukutine-gerelateerd eiwit	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5541751000172112	congenitale spierdystrofie type 1C door genetische mutatie van fukutine-gerelateerd eiwit	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)