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

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Morse Rawnsley Sargent syndrome
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Morse Rawnsley Sargent 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\Morse Rawnsley Sargent syndrome
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Morse Rawnsley Sargent syndrome

\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Morse Rawnsley Sargent syndrome

\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Holoprosencephaly sequence\Morse Rawnsley Sargent syndrome

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

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

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

3304952019 Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome en Synonym Active Case insensitive SNOMED CT core

3304953012 Morse Rawnsley Sargent syndrome en Synonym Active Case sensitive SNOMED CT core

3304954018 An extremely rare fatal central nervous system malformation occurring during embryogenesis presenting prenatally on the ultrasound with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures, intrauterine growth restriction. An X-linked recessive inheritance has been suggested. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3304951014	Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3304952019	Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3304953012	Morse Rawnsley Sargent syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3304954018	An extremely rare fatal central nervous system malformation occurring during embryogenesis presenting prenatally on the ultrasound with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures, intrauterine growth restriction. An X-linked recessive inheritance has been suggested.	en	Definition	Active	Case sensitive	SNOMED CT core