1220596009: Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\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\Microcephalic primordial dwarfism, insulin resistance 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\Microcephalic primordial dwarfism, insulin resistance syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Microcephalic primordial dwarfism, insulin resistance 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\Microcephalic primordial dwarfism, insulin resistance 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\Microcephalic primordial dwarfism, insulin resistance 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\Microcephalic primordial dwarfism, insulin resistance 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\Microcephalic primordial dwarfism, insulin resistance syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism, insulin resistance syndrome

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalic primordial dwarfism, insulin resistance syndrome

\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalic primordial dwarfism, insulin resistance syndrome

\General finding of observation of patient\Body measurement finding\...

\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism, insulin resistance syndrome

\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalic primordial dwarfism, insulin resistance syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Microcephalic primordial dwarfism, insulin resistance syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Microcephalic primordial dwarfism, insulin resistance syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalic primordial dwarfism, insulin resistance syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalic primordial dwarfism, insulin resistance syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Microcephalic primordial dwarfism, insulin resistance syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Microcephalic primordial dwarfism, insulin resistance syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Insulin resistance\Microcephalic primordial dwarfism, insulin resistance syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Microcephalic primordial dwarfism, insulin resistance syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Microcephalic primordial dwarfism, insulin resistance syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Microcephalic primordial dwarfism, insulin resistance syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Microcephalic primordial dwarfism, insulin resistance syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Microcephalic primordial dwarfism, insulin resistance 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\Microcephalic primordial dwarfism, insulin resistance syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalic primordial dwarfism, insulin resistance syndrome
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of carbohydrate absorption\Glucose-galactose malabsorption\Malabsorption of glucose\Insulin resistance\Microcephalic primordial dwarfism, insulin resistance syndrome
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Insulin resistance\Microcephalic primordial dwarfism, insulin resistance syndrome
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of carbohydrate transport\Malabsorption of glucose\Insulin resistance\Microcephalic primordial dwarfism, insulin resistance syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Microcephalic primordial dwarfism, insulin resistance syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephalic primordial dwarfism, insulin resistance syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Microcephalic primordial dwarfism, insulin resistance syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism, insulin resistance syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-May 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5045341012 Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
5045342017 Microcephalic primordial dwarfism, insulin resistance syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephalic primordial dwarfism, insulin resistance syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier
Microcephalic primordial dwarfism, insulin resistance syndrome	Is a	Primordial dwarfism	true	Inferred relationship	Existential restriction modifier
Microcephalic primordial dwarfism, insulin resistance syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Microcephalic primordial dwarfism, insulin resistance syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Existential restriction modifier
Microcephalic primordial dwarfism, insulin resistance syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Microcephalic primordial dwarfism, insulin resistance syndrome	Is a	Hypogonadism	true	Inferred relationship	Existential restriction modifier
Microcephalic primordial dwarfism, insulin resistance syndrome	Is a	Insulin resistance	true	Inferred relationship	Existential restriction modifier
Microcephalic primordial dwarfism, insulin resistance syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Microcephalic primordial dwarfism, insulin resistance syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Existential restriction modifier	4
Microcephalic primordial dwarfism, insulin resistance syndrome	Interprets	Body height	true	Inferred relationship	Existential restriction modifier	2
Microcephalic primordial dwarfism, insulin resistance syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	2
Microcephalic primordial dwarfism, insulin resistance syndrome	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	3
Microcephalic primordial dwarfism, insulin resistance syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	3
Microcephalic primordial dwarfism, insulin resistance syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Microcephalic primordial dwarfism, insulin resistance syndrome	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	1
Microcephalic primordial dwarfism, insulin resistance syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	1
Microcephalic primordial dwarfism, insulin resistance syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1

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
5045341012	Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5045342017	Microcephalic primordial dwarfism, insulin resistance syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module