722454003: Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus 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 endocrine gonad\Hypogonadism\Primary hypogonadism\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus 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 endocrine gonad\Hypogonadism\Primary hypogonadism\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome

\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Diabetes mellitus\Diabetes mellitus type 1\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism\Diabetes mellitus\Diabetes mellitus type 1\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3332204018 Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3332205017 Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3332207013 Mental retardation syndrome Belgian type en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	Is a	Diabetes mellitus type 1	true	Inferred relationship	Existential restriction modifier
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	Is a	Primary hypogonadism	true	Inferred relationship	Existential restriction modifier
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Existential restriction modifier	2
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	2
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	Finding site	Gonadal endocrine structure	false	Inferred relationship	Existential restriction modifier	3
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	3
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	4
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4

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
3332204018	Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3332205017	Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3332207013	Mental retardation syndrome Belgian type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module