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

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Congenital deformity\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)

\Finding of movement (finding)\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 (disorder)
\Finding of movement (finding)\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\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Holoprosencephaly sequence\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\Hereditary disorder of nervous system\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\X-linked hereditary disease\X-linked recessive hereditary disease\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\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\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\Holoprosencephaly sequence\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\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\Developmental hereditary disorder\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\Holoprosencephaly sequence\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)
\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 (disorder)
\Disease\Developmental 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

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

12693391000172117 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) Belgian module (core metadata concept)

12693401000172115 syndrome de Morse-Rawnsley-Sargent fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4515761000172114 syndroom van holoprosencefalie met hypokinesie en congenitale gewrichtscontracturen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4515771000172117 syndroom van Morse-Rawnsley-Sargent nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4515781000172119 syndroom met letale intra-uteriene groeirestrictie, corticale malformatie en congenitale contracturen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4515791000172116 letale intra-uteriene groeirestrictie-corticale malformatie-congenitale contracturen-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

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
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
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
12693391000172117	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)	Belgian module (core metadata concept)
12693401000172115	syndrome de Morse-Rawnsley-Sargent	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4515761000172114	syndroom van holoprosencefalie met hypokinesie en congenitale gewrichtscontracturen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4515771000172117	syndroom van Morse-Rawnsley-Sargent	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4515781000172119	syndroom met letale intra-uteriene groeirestrictie, corticale malformatie en congenitale contracturen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4515791000172116	letale intra-uteriene groeirestrictie-corticale malformatie-congenitale contracturen-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)