715628009: Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\MORM syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of male reproductive system\Disorder of male genital organ\Disorder of penis\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of male reproductive system\Disorder of male genital organ\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM 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 anomaly of male urogenital tract\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM 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\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM 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\MORM 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\Disorder of male reproductive system\Disorder of male genital organ\Disorder of penis\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM 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\Disorder of male reproductive system\Disorder of male genital organ\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM 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\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM 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 anomaly of male urogenital tract\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM 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\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Disorder of male reproductive system\Disorder of male genital organ\Disorder of penis\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Disorder of male reproductive system\Disorder of male genital organ\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Male genitalia finding\Disorder of male reproductive system\Disorder of male genital organ\Disorder of penis\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Male genitalia finding\Disorder of male reproductive system\Disorder of male genital organ\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Male genitalia finding\Penis finding\Disorder of penis\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Male genitalia finding\Disorder of male reproductive system\Disorder of male genital organ\Disorder of penis\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Male genitalia finding\Disorder of male reproductive system\Disorder of male genital organ\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Male genitalia finding\Penis finding\Disorder of penis\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM 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\MORM syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ\Disorder of penis\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM 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\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM 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\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of male reproductive system\Disorder of male genital organ\Disorder of penis\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of male reproductive system\Disorder of male genital organ\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM 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\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM 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\MORM syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ\Disorder of penis\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of male reproductive system\Disorder of male genital organ\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM 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\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM 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\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital anomaly of male urogenital tract\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM 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\Congenital anomaly of male genital system\Congenital anomaly of penis\Congenital hypoplasia of penis\MORM syndrome

\Finding of head and neck region\Head finding\...

\Disorder of head\Disorder of eye region\Disorder of eye\...

\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\MORM syndrome

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\MORM syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\MORM syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\MORM syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\MORM syndrome

\General finding of observation of patient\Body measurement finding\Weight finding\High body weight\Obese\Obesity\Obesity by fat distribution pattern\Central obesity\MORM syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3303220015 Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3303221016 Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome en Synonym Active Case insensitive SNOMED CT core

3303222011 MORM syndrome en Synonym Active Case sensitive SNOMED CT core

3303223018 Mental retardation, truncal obesity, retinal dystrophy and micropenis syndrome en Synonym Active Case insensitive SNOMED CT core

3305363018 MORM (mental retardation, truncal obesity, retinal dystrophy, micropenis) syndrome en Synonym Active Case sensitive SNOMED CT core

3303224012 Syndrome with the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
MORM syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
MORM syndrome	Finding site	Penile structure	true	Inferred relationship	Some	1
MORM syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
MORM syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
MORM syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	2
MORM syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
MORM syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	4
MORM syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
MORM syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
MORM syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
MORM syndrome	Is a	Congenital hypoplasia of penis	true	Inferred relationship	Some
MORM syndrome	Is a	Hereditary retinal dystrophy	true	Inferred relationship	Some
MORM syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
MORM syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
MORM syndrome	Is a	Central obesity	true	Inferred relationship	Some
MORM syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
MORM syndrome	Has definitional manifestation	Obese	false	Inferred relationship	Some
MORM syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	3
MORM syndrome	Finding site	Retinal structure	true	Inferred relationship	Some	3
MORM syndrome	Associated morphology	Hypoplasia	false	Inferred relationship	Some	4
MORM syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
MORM syndrome	Finding site	Penile structure	false	Inferred relationship	Some	4
MORM syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
MORM syndrome	Interprets	Body weight measure	true	Inferred relationship	Some	2

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
3303220015	Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3303221016	Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3303222011	MORM syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3303223018	Mental retardation, truncal obesity, retinal dystrophy and micropenis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3305363018	MORM (mental retardation, truncal obesity, retinal dystrophy, micropenis) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3303224012	Syndrome with the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.	en	Definition	Active	Case sensitive	SNOMED CT core