716169009: Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome

\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\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome

\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome

\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
\Disease\Disorder of head\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Malformation sequence\Holoprosencephaly sequence\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Malformation sequence\Holoprosencephaly sequence\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome

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

3304951014 Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3304952019 Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3304953012 Morse Rawnsley Sargent syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Is a	Holoprosencephaly sequence	true	Inferred relationship	Existential restriction modifier
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Is a	Arthrogryposis	false	Inferred relationship	Existential restriction modifier
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Existential restriction modifier
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier	4
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	3
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Associated morphology	Contracture	false	Inferred relationship	Existential restriction modifier	5
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	5
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Is a	Inherited arthrogryposis	true	Inferred relationship	Existential restriction modifier
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	2
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Finding site	Structure of central nervous system	true	Inferred relationship	Existential restriction modifier	1
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier	2
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	4
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Finding site	Structure of joint region	true	Inferred relationship	Existential restriction modifier	2
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Interprets	Range of joint movement	true	Inferred relationship	Existential restriction modifier	4
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier

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
3304951014	Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3304952019	Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3304953012	Morse Rawnsley Sargent syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module