715419004: Lethal congenital contracture syndrome type 2 (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2

\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\Lethal congenital contracture syndrome type 2
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
\Finding of movement\Motor dysfunction\Akinesia\Lethal congenital contracture syndrome type 2

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

\Congenital anomaly of skeletal muscle\Lethal congenital contracture syndrome type 2

\Muscle atrophy\Lethal congenital contracture syndrome type 2

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\...

\Degenerative disorder of muscle\Muscle atrophy\Lethal congenital contracture syndrome type 2

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Lethal congenital contracture syndrome type 2
\Disorder of skeletal muscle\Muscle atrophy\Lethal congenital contracture syndrome type 2

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

\Hereditary disorder of musculoskeletal system\Lethal congenital contracture syndrome type 2

\Degenerative disorder of musculoskeletal system\Muscle atrophy\Lethal congenital contracture syndrome type 2

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Lethal congenital contracture syndrome type 2
\Disorder of skeletal muscle\Muscle atrophy\Lethal congenital contracture syndrome type 2

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Lethal congenital contracture syndrome type 2

\Neurological finding\Motor nervous system finding\Motor dysfunction\Akinesia\Lethal congenital contracture syndrome type 2

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lethal congenital contracture syndrome type 2
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lethal congenital contracture syndrome type 2
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscle atrophy\Lethal congenital contracture syndrome type 2
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscle atrophy\Lethal congenital contracture syndrome type 2
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lethal congenital contracture syndrome type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Lethal congenital contracture syndrome type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscle atrophy\Lethal congenital contracture syndrome type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Lethal congenital contracture syndrome type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscle atrophy\Lethal congenital contracture syndrome type 2
\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\Lethal congenital contracture syndrome type 2
\Disease\Disorder of skeletal AND/OR smooth muscle\Degenerative disorder of muscle\Muscle atrophy\Lethal congenital contracture syndrome type 2
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Lethal congenital contracture syndrome type 2
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Muscle atrophy\Lethal congenital contracture syndrome type 2
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Lethal congenital contracture syndrome type 2
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Lethal congenital contracture syndrome type 2
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscle atrophy\Lethal congenital contracture syndrome type 2
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Lethal congenital contracture syndrome type 2
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Lethal congenital contracture syndrome type 2

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3302543019 Lethal congenital contracture syndrome type 2 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3302544013 Lethal congenital contracture syndrome type 2 en Synonym Active Entire term case insensitive SNOMED CT core module

3302545014 Multiple contracture syndrome Israeli-Bedouin type en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lethal congenital contracture syndrome type 2	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Lethal congenital contracture syndrome type 2	Is a	Arthrogryposis	false	Inferred relationship	Existential restriction modifier
Lethal congenital contracture syndrome type 2	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Lethal congenital contracture syndrome type 2	Associated morphology	Contracture	false	Inferred relationship	Existential restriction modifier	1
Lethal congenital contracture syndrome type 2	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Lethal congenital contracture syndrome type 2	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	1
Lethal congenital contracture syndrome type 2	Finding site	Structure of joint region	true	Inferred relationship	Existential restriction modifier	2
Lethal congenital contracture syndrome type 2	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Lethal congenital contracture syndrome type 2	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Lethal congenital contracture syndrome type 2	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier	2
Lethal congenital contracture syndrome type 2	Interprets	Range of joint movement	true	Inferred relationship	Existential restriction modifier	3
Lethal congenital contracture syndrome type 2	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Lethal congenital contracture syndrome type 2	Is a	Akinesia	true	Inferred relationship	Existential restriction modifier
Lethal congenital contracture syndrome type 2	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Existential restriction modifier
Lethal congenital contracture syndrome type 2	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	3
Lethal congenital contracture syndrome type 2	Is a	Muscle atrophy	true	Inferred relationship	Existential restriction modifier
Lethal congenital contracture syndrome type 2	Is a	Inherited arthrogryposis	true	Inferred relationship	Existential restriction modifier
Lethal congenital contracture syndrome type 2	Associated morphology	Atrophy	true	Inferred relationship	Existential restriction modifier	1
Lethal congenital contracture syndrome type 2	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1

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
3302543019	Lethal congenital contracture syndrome type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3302544013	Lethal congenital contracture syndrome type 2	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3302545014	Multiple contracture syndrome Israeli-Bedouin type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module