723439002: Native American myopathy (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\Native American myopathy

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

\Finding of head region\Orofacial cleft (disorder)\Cleft palate\Native American myopathy
\Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Native American myopathy

\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Native American myopathy
\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Native American myopathy
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Native American myopathy

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Native American myopathy

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

\Hereditary disorder of musculoskeletal system\Native American myopathy

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Native American myopathy

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Native American myopathy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Native American myopathy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Native American myopathy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Native American myopathy
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Native American myopathy
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Native American myopathy
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Native American myopathy
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Native American myopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Native American myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Native American myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Native American myopathy
\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\Native American myopathy
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Native American myopathy
\Disease\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Native American myopathy
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Native American myopathy
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Native American myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Native American myopathy
\Disease\Developmental disorder\Developmental hereditary disorder\Native American myopathy
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Native American myopathy
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Native American myopathy
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Native American myopathy
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Native American myopathy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498165019 Congenital myopathy, cleft palate. malignant hyperthermia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498166018 Native American myopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3498167010 Native American myopathy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3499902013 A neuromuscular disorder characterised by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anaesthesia. Reported exclusively in Native American Indians (Lumbee Indian population of North Carolina). Within this population, the prevalence is estimated at approximately 1:5,000. The locus has been localised to 12q13.13-14.1. The disease is transmitted in an autosomal recessive manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3499903015 A neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. Reported exclusively in Native American Indians (Lumbee Indian population of North Carolina). Within this population, the prevalence is estimated at approximately 1:5,000. The locus has been localized to 12q13.13-14.1. The disease is transmitted in an autosomal recessive manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Native American myopathy	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Native American myopathy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Native American myopathy	Is a	Cleft palate	true	Inferred relationship	Some
Native American myopathy	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Native American myopathy	Is a	Digestive system hereditary disorder (disorder)	false	Inferred relationship	Some
Native American myopathy	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Native American myopathy	Occurrence	Congenital	true	Inferred relationship	Some	2
Native American myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Native American myopathy	Occurrence	Congenital	false	Inferred relationship	Some	3
Native American myopathy	Finding site	Palatal structure	false	Inferred relationship	Some	2
Native American myopathy	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Native American myopathy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
Native American myopathy	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	2
Native American myopathy	Occurrence	Congenital	true	Inferred relationship	Some	1
Native American myopathy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Native American myopathy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Native American myopathy	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Native American myopathy	Finding site	Palatal structure	true	Inferred relationship	Some	1
Native American myopathy	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
Native American myopathy	Finding site	Bone structure of head	false	Inferred relationship	Some	3
Native American myopathy	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	3
Native American myopathy	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Native American myopathy	Is a	Developmental hereditary disorder	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
3498165019	Congenital myopathy, cleft palate. malignant hyperthermia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498166018	Native American myopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498167010	Native American myopathy (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499902013	A neuromuscular disorder characterised by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anaesthesia. Reported exclusively in Native American Indians (Lumbee Indian population of North Carolina). Within this population, the prevalence is estimated at approximately 1:5,000. The locus has been localised to 12q13.13-14.1. The disease is transmitted in an autosomal recessive manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499903015	A neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. Reported exclusively in Native American Indians (Lumbee Indian population of North Carolina). Within this population, the prevalence is estimated at approximately 1:5,000. The locus has been localized to 12q13.13-14.1. The disease is transmitted in an autosomal recessive manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core