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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Primordial dwarfism\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Primordial dwarfism\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Reproductive system hereditary disorder (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Reproductive system hereditary disorder (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Insulin resistance (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of endocrine gonad\Hypogonadism (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of carbohydrate absorption\Malabsorption of glucose\Insulin resistance (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Insulin resistance (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of carbohydrate transport\Malabsorption of glucose\Insulin resistance (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Primordial dwarfism\Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)

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

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 (core metadata concept)	SNOMED CT core
5045342017	Microcephalic primordial dwarfism, insulin resistance syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399966010	A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399967018	A rare genetic disease characterised by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridaemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5045341012	Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5045342017	Microcephalic primordial dwarfism, insulin resistance syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5045343010	A rare genetic disease with characteristics of severe pre and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, hypertriglyceridemia developing in childhood and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5045344016	A rare genetic disease with characteristics of severe pre and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, hypertriglyceridaemia developing in childhood and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399966010	A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399967018	A rare genetic disease characterised by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridaemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3387941001000116	Mikrozephaler primordialer Kleinwuchs-Insulinresistenz-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3387941001000116	Mikrozephaler primordialer Kleinwuchs-Insulinresistenz-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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