1172689007: Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures

\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Musculoskeletal finding\Bone finding\Disorder of bone\Bone injury\Fracture of bone\Fracture of multiple bones\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Musculoskeletal finding\Disorder of musculoskeletal system\Injury of musculoskeletal system\Bone injury\Fracture of bone\Fracture of multiple bones\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Bone injury\Fracture of bone\Fracture of multiple bones\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Prenatal-onset spinal muscular atrophy with congenital bone fractures

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Traumatic or non-traumatic injury\Injury of nervous system\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Traumatic or non-traumatic injury\Injury of musculoskeletal system\Bone injury\Fracture of bone\Fracture of multiple bones\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Disorder of body system\Disorder of nervous system\Injury of nervous system\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Disorder of body system\Disorder of nervous system\Motor neuron disease\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Disorder of body system\Disorder of musculoskeletal system\Injury of musculoskeletal system\Bone injury\Fracture of bone\Fracture of multiple bones\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Bone injury\Fracture of bone\Fracture of multiple bones\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Prenatal-onset spinal muscular atrophy with congenital bone fractures
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Prenatal-onset spinal muscular atrophy with congenital bone fractures

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

Descriptions:

Id Description Lang Type Status Case? Module

4635376013 Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4635377016 Prenatal-onset spinal muscular atrophy with congenital bone fractures en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Is a	Injury of nervous system	true	Inferred relationship	Existential restriction modifier
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Is a	Inherited arthrogryposis	true	Inferred relationship	Existential restriction modifier
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Is a	Motor neuron disease	true	Inferred relationship	Existential restriction modifier
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Interprets	Range of joint movement	true	Inferred relationship	Existential restriction modifier	4
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	4
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Finding site	Structure of joint region	true	Inferred relationship	Existential restriction modifier	1
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier	1
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Finding site	Structure of long bone	true	Inferred relationship	Existential restriction modifier	2
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Finding site	Structure of nervous system	true	Inferred relationship	Existential restriction modifier	3
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Is a	Fracture of multiple bones	true	Inferred relationship	Existential restriction modifier
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Associated morphology	Fracture of multiple bones	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4635376013	Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4635377016	Prenatal-onset spinal muscular atrophy with congenital bone fractures	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module