1201964008: Congenital fiber-type disproportion myopathy due to ZAK 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\Myopathy with abnormality of histochemical fibre type\A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported.\A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.
• \Muscle finding\Disorder of skeletal AND/OR smooth muscle (disorder)\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported.\A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported.\A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported.\A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.
• \Disease\Genetic disease\A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported.\A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported.\A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported.\A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.
• \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\Myopathy with abnormality of histochemical fibre type\A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported.\A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.
• \Disease\Disorder of skeletal AND/OR smooth muscle (disorder)\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported.\A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported.\A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.
• \Disease\Developmental disorder\Developmental hereditary disorder\A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported.\A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4945918011	A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4945919015	A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4945912012	Congenital fiber-type disproportion myopathy due to ZAK mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4945913019	Congenital fiber-type disproportion myopathy due to ZAK mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4945914013	Congenital fibre-type disproportion myopathy due to ZAK mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4945915014	CNM6 - centronuclear myopathy 6	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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