715482004: Microcephalic primordial dwarfism of Toriello type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism Toriello type
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalic primordial dwarfism Toriello type
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalic primordial dwarfism Toriello type
• \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 Toriello type
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalic primordial dwarfism Toriello type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalic primordial dwarfism Toriello type
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalic primordial dwarfism Toriello type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalic primordial dwarfism Toriello type
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microcephalic primordial dwarfism Toriello type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalic primordial dwarfism Toriello type
• \Disease\Developmental disorder\Developmental hereditary disorder\Microcephalic primordial dwarfism Toriello type
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microcephalic primordial dwarfism Toriello type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalic primordial dwarfism Toriello type
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism Toriello type

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3302775019	Microcephalic primordial dwarfism of Toriello type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3302776018	Microcephalic primordial dwarfism of Toriello type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3302778017	Microcephalic primordial dwarfism Toriello type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3302777010	Growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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