716334004: Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Congenital malformation of genital organs (disorder)\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Intellectual disability and short stature with hand contracture and genital anomaly 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

3302591018 Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302592013 Intellectual disability and short stature with hand contracture and genital anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302593015 Urban Rogers Meyer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3305544015 Prader Willi habitus with osteopenia and camptodactyly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3305545019 This syndrome has characteristics of intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

14048621000172110 syndrome d'Urban-Rogers-Meyer fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

14048631000172113 syndrome de déficience intellectuelle et petite taille avec contracture des mains et anomalies génitales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

14048641000172118 syndrome d'habitus Prader-Willi avec ostéopénie et camptodactylie fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4105721000172111 Urban-Rogers-Meyer-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4105731000172114 syndroom van Urban-Rogers-Meyer nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4105741000172119 syndroom van mentale retardatie, kleine gestalte, contractuur van hand en afwijking van genitaliën nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4105751000172117 syndroom van verstandelijke handicap, kleine gestalte, contractuur van hand en afwijking van genitaliën nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4105761000172115 syndroom van verstandelijke beperking, kleine gestalte, contractuur van hand en afwijking van geslachtsorgaan nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4105771000172112 Prader-Willi-habitus, osteopenie en camptodactylie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Is a	retard mental	false	Inferred relationship	Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Is a	Congenital malformation of genital organs (disorder)	true	Inferred relationship	Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Is a	Short stature disorder	true	Inferred relationship	Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Finding site	Genital structure	true	Inferred relationship	Some	1
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	2
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3302591018	Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302592013	Intellectual disability and short stature with hand contracture and genital anomaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302593015	Urban Rogers Meyer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305544015	Prader Willi habitus with osteopenia and camptodactyly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305545019	This syndrome has characteristics of intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
14048621000172110	syndrome d'Urban-Rogers-Meyer	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
14048631000172113	syndrome de déficience intellectuelle et petite taille avec contracture des mains et anomalies génitales	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
14048641000172118	syndrome d'habitus Prader-Willi avec ostéopénie et camptodactylie	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4105721000172111	Urban-Rogers-Meyer-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4105731000172114	syndroom van Urban-Rogers-Meyer	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4105741000172119	syndroom van mentale retardatie, kleine gestalte, contractuur van hand en afwijking van genitaliën	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4105751000172117	syndroom van verstandelijke handicap, kleine gestalte, contractuur van hand en afwijking van genitaliën	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4105761000172115	syndroom van verstandelijke beperking, kleine gestalte, contractuur van hand en afwijking van geslachtsorgaan	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4105771000172112	Prader-Willi-habitus, osteopenie en camptodactylie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)