719836007: X-linked distal arthrogryposis multiplex congenita (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\X-linked distal arthrogryposis multiplex congenita
\Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\X-linked distal arthrogryposis multiplex congenita
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\X-linked distal arthrogryposis multiplex congenita
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\X-linked distal arthrogryposis multiplex congenita

\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\Amyoplasia congenita disruptive sequence\X-linked distal arthrogryposis multiplex congenita
\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\X-linked distal arthrogryposis multiplex congenita
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\X-linked distal arthrogryposis multiplex congenita
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\X-linked distal arthrogryposis multiplex congenita

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\X-linked distal arthrogryposis multiplex congenita
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\X-linked distal arthrogryposis multiplex congenita
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked distal hereditary motor neuropathy\X-linked distal arthrogryposis multiplex congenita
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\X-linked distal arthrogryposis multiplex congenita
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\X-linked distal arthrogryposis multiplex congenita
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked distal hereditary motor neuropathy\X-linked distal arthrogryposis multiplex congenita
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked distal hereditary motor neuropathy\X-linked distal arthrogryposis multiplex congenita
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\X-linked distal arthrogryposis multiplex congenita
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Peripheral motor neuropathy\X-linked distal hereditary motor neuropathy\X-linked distal arthrogryposis multiplex congenita
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\X-linked distal hereditary motor neuropathy\X-linked distal arthrogryposis multiplex congenita
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\X-linked distal arthrogryposis multiplex congenita
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Peripheral motor neuropathy\X-linked distal hereditary motor neuropathy\X-linked distal arthrogryposis multiplex congenita
\Disease\Disorder of body system\Disorder of nervous system\Motor neuron disease\Lower motor neuron disease\Spinal muscular atrophy\X-linked distal arthrogryposis multiplex congenita
\Disease\Disorder of body system\Disorder of nervous system\Motor neuron disease\Hereditary motor neuron disease\Spinal muscular atrophy\X-linked distal arthrogryposis multiplex congenita
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Amyoplasia congenita disruptive sequence\X-linked distal arthrogryposis multiplex congenita
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\X-linked distal arthrogryposis multiplex congenita
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\X-linked distal arthrogryposis multiplex congenita
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\X-linked distal arthrogryposis multiplex congenita
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\X-linked distal arthrogryposis multiplex congenita
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\X-linked distal arthrogryposis multiplex congenita
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Amyoplasia congenita disruptive sequence\X-linked distal arthrogryposis multiplex congenita
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\X-linked distal arthrogryposis multiplex congenita
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\X-linked distal arthrogryposis multiplex congenita

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3318104013 X-linked distal arthrogryposis multiplex congenita (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
3318105014 X-linked distal arthrogryposis multiplex congenita en Synonym Active Entire term case sensitive SNOMED CT core module
3318106010 Spinal muscular atrophy with arthrogryposis en Synonym Active Entire term case insensitive SNOMED CT core module
3318107018 X-linked spinal muscular atrophy type 2 en Synonym Active Entire term case sensitive SNOMED CT core module
4578747016 Infantile-onset X-linked spinal muscular atrophy en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked distal arthrogryposis multiplex congenita	Is a	Spinal muscular atrophy	true	Inferred relationship	Existential restriction modifier
X-linked distal arthrogryposis multiplex congenita	Is a	Inherited arthrogryposis	true	Inferred relationship	Existential restriction modifier
X-linked distal arthrogryposis multiplex congenita	Is a	Amyoplasia congenita disruptive sequence	true	Inferred relationship	Existential restriction modifier
X-linked distal arthrogryposis multiplex congenita	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
X-linked distal arthrogryposis multiplex congenita	Finding site	Structure of nervous system	false	Inferred relationship	Existential restriction modifier	3
X-linked distal arthrogryposis multiplex congenita	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
X-linked distal arthrogryposis multiplex congenita	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	3
X-linked distal arthrogryposis multiplex congenita	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
X-linked distal arthrogryposis multiplex congenita	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	4
X-linked distal arthrogryposis multiplex congenita	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
X-linked distal arthrogryposis multiplex congenita	Associated morphology	Contracture	false	Inferred relationship	Existential restriction modifier	4
X-linked distal arthrogryposis multiplex congenita	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
X-linked distal arthrogryposis multiplex congenita	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	1
X-linked distal arthrogryposis multiplex congenita	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier	1
X-linked distal arthrogryposis multiplex congenita	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
X-linked distal arthrogryposis multiplex congenita	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	2
X-linked distal arthrogryposis multiplex congenita	Interprets	Range of joint movement	true	Inferred relationship	Existential restriction modifier	2
X-linked distal arthrogryposis multiplex congenita	Finding site	Structure of joint region	true	Inferred relationship	Existential restriction modifier	1
X-linked distal arthrogryposis multiplex congenita	Is a	X-linked distal hereditary motor neuropathy	true	Inferred relationship	Existential restriction modifier
X-linked distal arthrogryposis multiplex congenita	Finding site	Peripheral nervous system structure	true	Inferred relationship	Existential restriction modifier	3
X-linked distal arthrogryposis multiplex congenita	Finding site	Nerve structure	true	Inferred relationship	Existential restriction modifier	4

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
3318104013	X-linked distal arthrogryposis multiplex congenita (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3318105014	X-linked distal arthrogryposis multiplex congenita	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3318106010	Spinal muscular atrophy with arthrogryposis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3318107018	X-linked spinal muscular atrophy type 2	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4578747016	Infantile-onset X-linked spinal muscular atrophy	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module