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

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Urban Rogers Meyer syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Urban Rogers Meyer syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Urban Rogers Meyer syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Urban Rogers Meyer syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Urban Rogers Meyer syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\Urban Rogers Meyer syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Urban Rogers Meyer syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Urban Rogers Meyer syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Urban Rogers Meyer syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Urban Rogers Meyer syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Urban Rogers Meyer syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Urban Rogers Meyer syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Urban Rogers Meyer syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Urban Rogers Meyer syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Urban Rogers Meyer syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Urban Rogers Meyer syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Urban Rogers Meyer syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Urban Rogers Meyer syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Urban Rogers Meyer syndrome

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3302592013 Intellectual disability and short stature with hand contracture and genital anomaly syndrome en Synonym Active Case insensitive SNOMED CT core

3302593015 Urban Rogers Meyer syndrome en Synonym Active Case sensitive SNOMED CT core

3305544015 Prader Willi habitus with osteopenia and camptodactyly en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Urban Rogers Meyer syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Urban Rogers Meyer syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Urban Rogers Meyer syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Urban Rogers Meyer syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	2
Urban Rogers Meyer syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Urban Rogers Meyer syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Urban Rogers Meyer syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Urban Rogers Meyer syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Urban Rogers Meyer syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Urban Rogers Meyer syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Urban Rogers Meyer syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Urban Rogers Meyer syndrome	Is a	Congenital malformation of genital organs	true	Inferred relationship	Some
Urban Rogers Meyer syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Urban Rogers Meyer syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Urban Rogers Meyer syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
Urban Rogers Meyer syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Urban Rogers Meyer syndrome	Finding site	Genital structure	true	Inferred relationship	Some	1
Urban Rogers Meyer syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

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
3302591018	Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3302592013	Intellectual disability and short stature with hand contracture and genital anomaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3302593015	Urban Rogers Meyer syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3305544015	Prader Willi habitus with osteopenia and camptodactyly	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core