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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Malformation sequence\Holoprosencephaly sequence\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Malformation sequence\Holoprosencephaly sequence\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304952019	Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304953012	Morse Rawnsley Sargent syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401240016	A rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3304951014	Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3304951014	Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304952019	Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3304952019	Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304953012	Morse Rawnsley Sargent syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401240016	A rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3383721001000117	Letale intrauterine Wachstumsverzögerung-kortikale Fehlbildungen-kongenitale Kontrakturen-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6245971000241118	syndrome de retard de croissance intra-utérine, malformation corticale et contractures congénitales	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6245981000241116	syndrome de Morse-Rawnsley-Sargent	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6245971000241118	syndrome de retard de croissance intra-utérine, malformation corticale et contractures congénitales	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6245981000241116	syndrome de Morse-Rawnsley-Sargent	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3383721001000117	Letale intrauterine Wachstumsverzögerung-kortikale Fehlbildungen-kongenitale Kontrakturen-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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